Gene Variants Linked to Alzheimer's

A report by Medical News Today has discovered 17 genetic variants that are possibly linked to Alzheimer’s disease. Gene location is one possibility that might genetically cause Alzheimer’s disease along with African ancestry and brain immune cell mutations. One of the most notable variants would be KAT8. This gene is mainly responsible for cerebral development within the brain and researchers think this is one factor that may cause Alzheimer’s disease. 

Having more research about the main cause of Alzheimer’s is really important because as of right now, there is no cure for the disease. I found this article interesting and I hope that one day there is a cure for Alzheimer’s because I lost my Grandma to the disease a few years ago. I think having a better understanding of genetic factors that cause Alzheimer’s will also allow people who have a family history of the disease to be able to take better preventative measures against it.

Scientist Spot Gene Mutation Linked to Esophageal Cancer

The article elaborated on how scientists and researchers from Case Western Reserve University discovered a gene mutation linked to esophageal cancer, which helps identify the early stages of individuals who are at high risk of developing highly lethal cancer. Esophageal adenocarcinoma (EAC) is a cancer of the food pipe, and the researchers used molecular techniques and tissues from humans and animal models to understand the causes and effects of CAV3 (Caveolin-3) in the esophagus. According to the article, the CAV3 mutation leads to loss of normal function and cannot repair the injured esophagus, increasing the risk of developing EAC. The discovery is relevant to individuals who are suffering from chronic heartburn, where the acid and bile from the stomach reach up and injure the lower esophagus.

                                    

I thought the article was interesting. I liked how the author emphasized the main topic and elaborated on how the discovery helps to identify the early signs of patients who are at high risk of having esophageal cancer, and it gives an insight into how CAV3 helps in esophageal healing and makes the therapy more effective. At the end of the article, I liked how the author concluded the report with future improvements in screening more families that are carrying genetic defects in CAV3 or other Caveolin genes. 

Sources: 

[1] https://www.usnews.com/news/health-news/articles/2023-09-22/scientists-spot-gene-mutation-linked-to-esophageal-cancer 

[2] https://www.cancer.gov/types/esophageal/patient/esophageal-treatment-pdq

Gene Therapy Brings Hearing to Kids With Congenital Deafness

    The article titled “Gene Therapy Brings Hearing to Kids With Congenital Deafness” reports that gene therapy is being tested to bring back the hearing of children with congenital deafness. This is done by injecting the protein responsible for transferring sound singles called otoferlin, into the inner ear of six deaf children, and studies have found that they have experienced hearing within approximately six months of the injection. A lack of otoferlin is typically caused by a gene mutation that ends up making people deaf from birth. Otoferlin correction is a groundbreaking study because it is the first treatment in almost 60 years for deafness. Gene therapy for deaf children has also correlated to better speech patterns and allowed children to carry out thorough conversations. 

    I think this article is great and brings a lot of meaningful insight into how long there has been no treatment or cure for congenital deafness. It shows that research with gene therapy is also advancing to a point where researchers are making groundbreaking discoveries for new treatments for different disabilities or diseases. 

Scientists Discover Genetic Cause of Lupus, a Chronic Autoimmune Disease

    A recent study published in the journal Nature and discussed in SciTechDaily found that a mutation in the TLR7 gene causes lupus. It is important to note that this is not the only way people get lupus and only makes up a small number of those with lupus, but it helps to make great strides towards treating and curing the disease. This being said, the article explains that many lupus patients seem to have overactivity in the TLR7 pathway. This further confirms the causal connection between TLR7 and lupus. On the other side, underactivity of TLR7 seems to be connected to severe COVID-19 cases. This means it would not be a good idea to simply deactivate the gene or to mutate it to be less active. Another major find as a result of this study is why lupus primarily affects women. The article explains that the TLR7 gene is found on the X chromosome. As a result, women have more of a chance than men to have a mutation in this gene since they have 2 X chromosomes. This stud has helped to shed a lot of light on some causes of lupus and why it affects the demographics it affects.

Monarch Predators Have Also Evolved to Withstand Toxic Milkweeds

Monarch butterflies are famous for their beautiful colors and their long migration patterns. They are also well known for being poisonous due to their consumption of the milkweed plant. A genetic mutation found in monarchs block the plant’s toxins while also allowing said toxic to accumulate in the insect. This mutation is found in 3 copies of a gene for the sodium-potassium pump and is critical to the monarch’s ability to tolerate the toxins of the milkweed found a group of researchers two years ago. This mutation, along with the monarch’s warning color has helped as a deterrent to hungry predators.

However, monarchs are not the only species that can tolerate the milkweed’s toxins. This article shows that four different predators of monarchs were recently discovered to have the same genetic mutation that monarchs have. These organisms are the black-headed grosbeak, the eastern deer mouse, a tiny wasp that parasitizes monarch eggs, and a nematode that parasitizes monarch larvae. All four organisms have at least one or more copies of the gene. The black-headed grosbeak and wasp has evolved single-nucleotide mutations in their sodium pump gene in two of the three locations where monarchs evolved the mutation. The eastern deer mouse and nematode have their changes in all three locations. Noah Whiteman, evolutionary biologist and member of the study, noted that this might be the first time we are seeing the same resistance mutations that have been found in the second and third trophic levels that evolved due to the second trophic level’s ability to feed on toxic plants. The team suspects that there are other organism in the food chain that begins with the milkweed that also have the same mutations found in monarchs.

Deletion of the Abi3 Gene Can Increase the Development of Alzheimer’s Disease

In the article, “Deletion of Abi3 gene locus exacerbates neuropathological features of Alzheimer’s disease in a mouse model of Aβ amyloidosis,” a study was conducted to determine whether the loss of the gene Abi3 can increase the chances of developing Alzheimer’s disease (AD). The study, led by Hande Karahan and Jugnsu Kim, at the Indiana University School of Medicine discovered that the deletion of the gene mutation ABi3 decreases the amount of microglia found within the brain. Microglia cells are the predominant immune cells in the body, but when they are damaged it can cause a series of neurological diseases. They can play a role in brain infections and inflammation. To confirm their findings, they tested it using mouse models by removing the ABi3 gene in the mouses that had AD. 

Through the mouse models, they were able to see the increased levels of inflammation and dysfunctions relating to learning and memory deficits in the brain. Also, they saw the it had impaired the movement of the microglia cells. After examining the mouse models closely, they were able to come to the conclusion that the loss of the ABi3 gene can possibly be another factor in the risk of developing Alzheimer’s disease. 

https://www.sciencedaily.com/releases/2021/11/211106125841.htm 

https://www.genecards.org/cgi-bin/carddisp.pl?gene=ABI3

Zokinvy Meet Progeria

 Subject: Drug Treatment 

Article: ¨The FDA has approved the first drug to treat the rapid-aging disease progeria¨

A rare genetic disorder in children known as Hutchinson-Gilford progeria syndrome or most commonly known as progeria for short. Has shorter the lifespan of children before they turn 15. This new drug approved by the FDA is the first and although not a treatment for the disorder it does show promise to lengthen the child's lifespan. Children with this disorder have a mutation in their genes where defective amounts of progerin. Similar to Lamin A which holds the nucleus together, progerin attaches to the cell membrane and isn't being recycled for fresh proteins and so premature aging occurs. Symptoms of the disorder typically begin to show two years after birth, with the loss of hair, body fat, joint stiffness, cardiovascular disease etc. The medication that has been produced blocks some of the progerin, lowering the amount in the cells. The new drug is called Zokinvy and it was produced by Eiger Biopharmaceuticals of Palo Alto California. Since its gotten approval by the FDA, further research is being done with other medication so that there's a  possibility to continue lengthening the lifespan of these children with the ultimate goal of resolving the mutation. With only a few cases in the world, the importance to find treatments that could lengthen a child's life is not only primal for this disorder but it represents that there is headway for this illness and many others like it.

Article Link: https://www.sciencenews.org/article/fda-approved-first-drug-treat-rapid-aging-disease-progeria 

Supporting Link(s): https://medlineplus.gov/genetics/condition/hutchinson-gilford-progeria-syndrome/#causes 

https://www.fightaging.org/archives/2019/06/progerin-acts-in-normal-aging-as-well-as-progeria-but-is-it-important/ 

https://www.fda.gov/news-events/press-announcements/fda-approves-first-treatment-hutchinson-gilford-progeria-syndrome-and-some-progeroid-laminopathies 

Main Source: https://www.sciencenews.org/topic/genetics

Ancient Gene Mutation May Have Made Humans Well Equipped for Long-Distance Running

A new study that was published in Proceedings of the Royal Academy B proposes that due to a gene mutation that occurred millions of years ago, human beings all share an innate aptitude for long-distance running. The research was led by cellular and molecular physician Ajit Varki and his team. Their findings link the hominid transition from forest-dwellers to upright walkers of the African savannas straight to a gene called CMP-Neu5Ac Hydroxylase (CMAH for short).


Animals such as cows, mice, and chimpanzees carry a functional form of the CMAH gene. CMAH helps to produce the sugar molecule sialic acid, and all of these animals can produce two different types of the acid. Modern humans have a mutated form of this CMAH gene which causes it to be “broken”, and so they can only produce one type. In previous studies, this broken gene has been associated with severe muscular dystrophy, increased risks of cancer, and type II diabetes. However, Varki and others make the argument that its effects are not entirely negative, but that this mutated gene may have been what shaped humans into outstanding long-distance runners.


This gene mutated in our ancient ancestors about 2-3 million years ago. At this same time, these hominids were undergoing a change in their lifestyle in which their behavior became much more like modern humans and less primitive. Additionally, physiological changes were occurring – from larger feet, to strong gluteal muscles and long, powerful legs. These better adapted hominids were thus able to run for extremely long distances, enduring the brutal heat of the sun and exhaustion superior to the animals around them. This enabled them to practice the effective strategy of persistence hunting.


The physiological and behavioral changes can be seen quite clearly in one of our early ancestors – that of Homo erectus, “Upright man”, who lived between 1.89 million and 143,000 years ago. On the upper end, this widespread hominin was 6’1 and 150 pounds. While his brain was still somewhat smaller than ours, he was a quite intelligent and crafty survivalist. His body was built very similar to modern humans, with characteristic long legs and short arms relative to the torso that would have been well suited to endurance running. He would have very likely have acquired the CMAH gene mutation that we humans carry today.


To test their hypothesis, the research team subjected two groups of mice to run on small treadmills. One group had functioning CMAH genes, while the other had broken ones. The latter group was observed to have 30% greater endurance, ran 12% faster, and went 20% further than the mice with the functioning CMAH gene. After these tests, the mice’s muscles were analyzed by physiologist Ellen Breen, one of the co-authors of the study. She discovered that the mice with the mutated gene were better resistant to fatigue. Moreover, Jillian Mock of Popular Science stated that these mice were also able to process oxygen more efficiently.


Ultimately in their study, the team came to the conclusion that the CMAH mutation probably could have been key to hominids running faster and further. Nonetheless, as other scientists have pointed out, it is still too early to say for sure if the link between the mutated gene and human propensity for long-distance running exists, but future research should bring us closer to the answer.

No Pain or Anxiety

 

A 66 year old woman in Scotland had told doctors that she felt no arthritis pain before and after her surgery. According to an article in Popular Science her case could potentially lead to new ways to alleviate depression in patients. Researchers at University College London specializing in pain genetics have tested the woman's DNA and some from her immediate family. They found a newly discovered gene has a mutation. There is a deletion of the gene which is called a pseudogene, it is a copy of a fully functioning gene just copied elsewhere. The woman's pseudogene is called FAAH-OUT where FAAH normally promotes euphoric or happy feelings and decreases negative sensations. FAAH affects the anandamide levels, this woman's anandamide levels were 70% higher than typical, causing her to not feel pain and keep her happy. The woman has never required pain medication, she would only take it due to being told to by doctors. The woman's father was the same way but her daughter is normal and her son is heterozygous for the rare mutation his mother has. This mutation has been tested in mice where they have little pain, less anxiety, enhanced skin healing, and short term memory problems. Research into slight loss of FAAH is still ongoing to help determine if it will help reduce anxiety and depression.




Although, this is still ongoing research, I hope that they can find a way to help people with severe depression get better with something more natural than chemicals produced outside of the body. As for the woman whose DNA is being tested for the research, I hope that she is able to deal with her memory problems. Also, I hope that she continues to be unable to feel pain because at her age if she were to start feeling the pain fully I do not think she would be able to handle it easily.

Gene Mutation Causes Woman to not Feel Any Pain

A 65 year old woman from Scotland went to a Doctor complaining that she was having issues with her hip. Upon running tests, it was concluded that she suffered from severe joint degeneration (a very painful disease)-but she felt no pain. Dr. Devjit Srivastava, a consultant in Anesthesia and Pain Medicine at NHS hospital in Scotland, diagnosed her to having an insensitivity to pain. The woman also confessed to never being stressed, anxious, or ever needing any painkillers-even after surgery.

The woman was sent to a pain geneticists at the University of Oxford and it was discovered that she had two mutations in her genes: one was a microdeletion is a pseudogene which researchers has described for the first time as FAAH-OUT, and another mutation in the neighboring gene that controls the FAAH enzyme. The FAAH gene is responsible for signaling pain sensation, mood and memory.

https://www.sciencedaily.com/releases/2019/03/190327203450.htm

Researchers believe there are many more people with this mutation in their FAAH gene, but live their lives completely unaware they even have it. By studying these gene mutation more, it can help immensely with people that live in chronic pain, or even patients recovering from surgery. By manipulating the FAAH-OUT gene, Doctors would be able to treat their post-surgery patients without the use of opioids, and decrease their patients healing time. In my opinion, this would be a very interesting research to conduct as the opioid crisis is at its all time high. 

Genetically Edited Humans (again)?

NPR reported yesterday that another scientist was using CRISPR technology to genetically edit embryos. (You may have heard of the Chinese scientist He Jiankui being criticized by the world for bringing to life two genetically edited babies). Even with all the controversy regarding this experiment, Dieter Egli-a developmental biologist at Columbia University, is modifying DNA in human embryos.Dr. Egli states that he has no intention of bringing the embryos to life or creating designer babies. He wants to use the Gene editing tool CRISPR to safely remove mutations in human embryos to prevent disease from being passed down to other generations. However, if he is successful, Dr. Egli does want to allow the genetically edited embryos to further develop. Dr. Egli is currently only focusing on the gene that causes blindness.

Photo of Dr. Egli in his Lab

While these experiments are highly controversial, I do believe it is crucial to understanding genes and mutations. I don't believe Dr. Egli and Dr. Jiankui can be compared. Dr. Egli is simply using the embryos for research purposes-the intention of developing them further in the womb is not an option. If the CRISPR technology is truly able to edit genes at an embryonic state, there are so many congenial illnesses such as cystic fibrosis and Huntington's disease that could be prevented.

Our Genetic Basis of Endurance Running

Humans have been long heralded for their ability to run for long distances, an ability that separates us from other mammalian species. As we learned from biodiversity and evolution, several key structural changes of early hominid species led to the development of humans being able to walk and run upright with ease. Some of these changes include: angled femoral bone head, s-shaped spine, and placement of foramen magnum directly under the skull. Although these structural changes have aided humans greatly in efficiently traveling on two legs, not much is known about the genetic mechanism of our endurance prowess. Not until a study done by Okerblom et al., did a genetic link to our long distance running ability was found.

The researchers pinpointed a mutated gene that they believed served as a catalyst to running, called CMAH, whose mutation coincided with a change in lifestyle from more primate to more human (2-3mya). Current mutations in CMAH have been most commonly linked with several disorders, such as muscular dystrophy and diabetes, however, Okerblom et al. hoped to shed light on the positives of this gene with their study. To conduct their study, the researchers utilized two groups of mice, one with and the other without mutations in the CMAH gene. To test the effects of mutation in this gene on endurance, they had the two groups of mice run on a small treadmill for a period of time. What they found was that the mice with the mutated version of the gene ran faster and further than the mice without mutations.

With the results of this study, Okerblom et al. sought to find the genetic basis of human's ability to run for long distances. Although several professionals advise caution in making an immediate link with the mutated CMAH gene to increased endurance, it is a promising step forward in finding an answer to our history of endurance.

As a distance runner myself, I often marvel at some of the athletic feats of elite distance runners when they smash a record at a certain distance. The record breaking marathon ran recently by Eliud Kipchoge at Berlin, for example, is one of the most impressive endurance feats I can think of. Eliud nearly clocked a sub two hour marathon, for a 4:38 average for each mile, which is faster than most of us can run for one. Eliud has been close to breaking two hours at this distance, which has long been thought to be impossible. That makes me wonder if he, in fact, carries a mutated version of the CMAH gene.

Article

5 Things to Know Before Purchasing a DNA Testing Kit

DNA testing kits are becoming more affordable and cheaper than they ever were before. Many popular brands like 23andMe and ancestory.com are selling these kits and all it takes is a sample of your spit and you are given information about your DNA. Alicia Park from TIME Magazine thinks there are five important things everyone should know before purchasing these kits. These five things are; you won't find out everything about your genes, don't expect to learn if you will get cancer, you'll learn more about where you came from, your DNA might not be as private as you think, and your DNA isn't your destiny. Many people will think that if there results show they have a specific "cancer causing" gene they will one day get cancer no matter what. Unfortunately, this person might be right, but just because they have the gene does not mean they will get cancer. It only means that their chances of getting cancer might be higher than someone else without that gene. DNA testing kits can be very interesting and fun if the buyer has an understanding of what their results show.













Article URL: http://time.com/5063464/23andme-dna-ancestry-test/
Additional Information: https://www.23andme.com/

South Asian Social Castes

An article in the New York Times discusses how recessive genes are very common in regional groups; this is due to the founders effect.  These recessive genes are expressed when the child receives the mutated gene from both parents which is much more common in regional groups since they participate in consanguineous mating.  The Vysva population has a gene mutation which causes a bad reaction to muscle relaxants, Ashkenzai Jews are susceptible to Gaucher disease and cystic fibrosis, and congenital nephrotic syndrome is prevalent in the Finns population.  The mutations range from not harmful to terminal which creates a higher than average mortality rate.  Recording data about these diseases is important because it allows for prenatal and premarital screenings.  These screenings have been used within the Ashkenazi Jew population and has basically eliminated new cases of Tay-sachs disease in the population.  These populations provide opportunities to study how genes manifest naturally in humans.  It is important to research even the rarest diseases because these mutations can be inherited even if you do not marry your first cousin, some bloodlines simply have a higher risk for certain mutations.  

Only 2% of the World's Population has Natural Red Hair





























In the article "Genetics: the Common Thread of Redheads, St. Patrick, Vampires and Culture" Ken Williams Jr., D.O., discusses how rare the gene mutation that causes red hair is. The gene, MC1R, is a recessive trait and is associated with fair skin and red, auburn and strawberry colored hair. The mutation of this gene blocks production of eumelanin which is responsible for dark brown and black pigments. Since this is blocked another type of melanin is increased, pheomelanin. This is responsible for red and blond pigments resulting in the fair skin, red hair and freckles. The mutated MC1R gene can be found all around the world but mainly in Scotland and Ireland. Since it is a rare occurrence it is estimated only 2% of the world's population is a true redhead. I found this interesting because 2% is not a high statistic and it is surprising how few people have the mutated gene around the world.


http://health.usnews.com/health-care/for-better/articles/2017-03-17/genetics-the-common-thread-of-redheads-st-patrick-vampires-and-culture

https://ghr.nlm.nih.gov/gene/MC1R

Night Owl Gene

The article "Study Finds 'Night Owl' Gene Variant" discusses the mutation of the gene CRY1, that results in people with longer circadian rhythms. People with longer circadian rhythms stay up longer at night and are also known as "night owls." The mutation of the CRY1 gene slows down a persons internal clock which causes trouble falling asleep. An experiment done by Young and Alina Patke, examined peoples circadian rhythms. They isolated them from signs of night and day and allowed them to sleep and eat when they pleased for two weeks. The study showed that most people had a normal sleep cycle, however the people with delayed sleep phase disorder (DSPD) not only stayed up longer but had a cycle that was 30 minutes longer. When further examining DSPD, one of their patients was producing the CRY1 protein more than normal, slowing down the internal clock. After this was found the patients family was also tested. Five people in the patients family had the same mutated gene. According to their research 1 in 75 people have the mutated CRY1 gene. All in all, studies are further being conducted to focus on this mutation.

http://www.businessinsider.com/chronotype-quiz-morning-person-or-night-owl-2017-3

https://www.rdmag.com/article/2017/04/study-finds-night-owl-gene-varia

Genetic Mutation Testing Now Made Public

23andMe is just one of the many companies that use a consumers DNA to report to them their ancestry and heritage. The above picture is the device a consumer spits in and sends away to the company. Now the company wants to use the DNA in order to provide consumers with do-it-yourself diagnostic testing. At first, this service was stopped by the FDA in 2013 because they feared consumers would use the information to make real life medical decisions. The FDA finally allowed 23andMe to tell consumers “whether they possess genetic mutations (Maxmen, 2017)” that are known to cause certain medical conditions. Some of the conditions include Parkinson’s, Alzheimer’s, coeliac and thrombophilia. The downsides of this service include consumers reading these results without the help of a genetic counselor or doctor. 

Nature.com Article

23andMe

Discovering Unknown Gene Mutations in Iceland's DNA

Sequencing genomes is incredibly helpful in adding to the understanding of different species and populations. Having data for sequenced genomes also gives a lot of information for people that study gene mutation and disease. Scientists in Iceland sequenced the complete genomes of 2,636 people from Iceland which is the biggest population sequenced out of every country in the world (in 2015). From this information they were able to also deduce information of the genomes of  more than a hundred thousand other Icelanders, adding to the extensiveness of this feat.

http://travel.nationalgeographic.com/travel/countries/iceland-guide/

This genetic information helped scientists discover how different mutations that were unknown before affect certain diseases. Not all diseases are caused by a mutation on a single gene, mutations of many genes can cause certain disease or the likelihood of someone getting that disease. There are so many different combinations of mutations yet to be discovered, but having a big population size with available genetic information can lead to more because scientists can find things in common with people from the same population. Scientists found that eight people from Iceland with the same mutation on a MYL4 gene all had a diseases that causes irregular heartbeat in common. Having a big sample size to compare data to is very helpful in science, and can help lead the studies of how mutations affect many diseases, progressing. 

http://www.nytimes.com/2015/03/26/science/in-icelands-dna-clues-to-what-genes-may-cause-disease.html?_r=0

Discovery of Autism Gene Mutation that Slows Brain Activity

When the term, "autism" was first used by Eugen Bleuler, a Swiss psychiatrist, it was referred to one group of symptoms of schizophrenia in 1911. Autism became more prevalent during the 1940's when researchers used the term to describe children with emotional or social problems. Over time during the 1960-1980's, research was funded for treating autism through medications such as LSD, electric shock, and behavioral change techniques. Upon reaching the early 2000's, the prevalence of autism in the United States has risen to almost 120%. 

According to medical experts, autism is characterized by "repetitive behaviors and problems with communication and social skills." Typically, autism is 4.5 times more common among boys than girls. This usually occurs around the age of 3 and can last an entire lifetime. Signs can be seen very early on or even later on in life. Unfortunately, there are no cures for autism or treatments that can reduce the severity of the symptoms.

However, researchers from McMaster University have identified the gene mutation that impedes brain activity. Lead investigator, Karun Singh of the Stem Cell and Cancer Research Institute, and his team of researchers have identified the mutations in the gene called DIXDC1. By doing a genetic analysis of individuals of individuals with autism, scientists have identified abnormalities in the DIXDC1 gene that stop the DIXDC1 protein from instructing brain cells to form synapses. Synapses are essential structures within the nervous system that enable signaling between nerve cells. In some individuals with autism, mutations were found on this specific gene in which caused the gene to be "switched off." This causes the synapses to remain immature, thus reducing brain activity.

Based on these results, Singh's team of researchers who specialize in drug recovery, can begin to research for drugs that will turn on the DIXDC1 gene on and correct synaptic connections.  While this gene mutation is found only in small numbers of individuals, researchers can begin to pinpoint other genes that have similar symptoms and administer drugs that can correct the synaptic connection. This discovery is a turning point in autism treatment because it helps to pave the way for targeting the core symptoms of autism. The key to this study is that treatments can be researched that allow brain cell synapse growth and activity to restored, thus improving the overall condition of autism patients. By taking the concepts from this study, the genetic analysis can be applied to other forms of mutations or diseases in which is a important breakthrough in medicine. Hopefully in due time, autism patients can get the treatment they need that will help to reduce the social problems they encounter.

Researchers identify genetic marker for heart failure

A team of scientists at The University of Texas Health Science Center at Houston has identified powerful predictors of congestive heart failure. This is major cause of hospitalization and death in the United States with approximately 5.7 million adults affected in 2016. They analyzed how gene mutations affect circulating metabolites in the human body.

A mutated gene, SLCO1B1, was found to be associated with high levels of blood fatty acid, which is a strong predictor for the development of future heart failure and the mutation itself has a direct effect on heart failure risk. A major risk factor of heart failure is high blood pressure, or hypertension, which is more common among African-Americans. While the finding was made in a population of African-American participants, the researchers were able to confirm the relationship among European Americans as well.

Because of the aging population, the estimated prevalence and cost of care for heart failure is expected to increase dramatically. By 2030, it's estimated that more than 8 million people in the United States will have heart failure with $70 billion total costs, according to the American Heart Association.