Why Huntington's Disease May Take So Long To Develop

 Why Huntington's Disease May Take So Long To Develop

Why Huntington’s disease may take so long to develop (sciencenews.org)

Huntington's disease - Symptoms and causes - Mayo Clinic

By: Tina Hesman Saey

    After reading this article discusses how Huntington's disease takes a long time to develop. HTT is the mistakenly repeated gene that brings forth Huntington's disease. According to Mayo Clinic, Huntington's disease is a rare, inherited disease that causes the progressive breakdown of nerve cells in the brain. Huntington's disease causes cognitive, movement, and psychiatric disorders. Preventing the repetition of the HTT gene can stop the disease from growing. 41,000 people in the U.S. have Huntington's disease and 200,000 people are at risk of having that condition. I found this shocking that a large number of Americans suffer from this illness. I learned that people who have more than 40 repeats are at risk of obtaining Huntington's disease rather than a person having 26 or fewer repeats. This disease is very fatal because it can potentially cause paralysis or death due to heart failure. I believe that this article was very educational and increased my knowledge of Huntington's Disease and how it can develop. 

Is you brain controlling your face shape and behavior?

Turns out our brains might have even more control over us than we think. Based on a study led by LU Leuven and Stanford, our brain might be controlling more than our movements but our personalities and behaviors. They identified over 76 overlapping genetic locations that shape both our faces and brain, which can easily debunk several persistent pseudoscientific claims related to our face and what it says about us. Although there were already suspicions of this link, this thought was purely based on model organism researches and clinical knowledge of extremely rare conditions. Joint senior for this study, Professor Peter Claes said it all began when they, “set out to map the genetic link between individuals’ face and brain shape much more broadly, and for commonly occurring genetic variation in the larger, non-clinical population. In these previous studies, we analyzed 3D images of faces and linked several data points on these faces to genetic information to find correlations.”

For this newfound discovery, they relied on previous studies that provided them with 20,000 MRI brain scans and genetic information. The focus was placed "on variations in the folded external surface of the brain," this allowed for the identification of 472 genomic locations that have shaped our brains; meanwhile, 76 of these genomic locations are linked to the face shape.

Fortunately, by them doing further research on this genetic link, they discovered there was no genetic link with behavior or neuropsychiatric disorders. "Our results confirm that there is no genetic evidence for a link between someone’s face and that individual’s behavior. Therefore, we explicitly dissociate ourselves from pseudoscientific claims to the contrary. For instance, some people claim that they can detect aggressive tendencies in faces by means of artificial intelligence. Not only are such projects completely unethical, but they also lack a scientific foundation," Professor Claes clarifies. This is a very interesting study. Our brain is already so powerful, to think that it'll be strong enough to have such a genetic hold on us would honestly be very surprising.

Links:

https://scitechdaily.com/genetic-link-discovered-between-face-and-brain-shape/

https://www.nature.com/articles/s41588-021-00827-w

Heart Failure: A Result of a Faulty Gene

Researchers at Imperial College London have discovered 1% of of people carry faulty versions of a gene that can lead to heart failure. The gene itself codes for a protein called titin, which can trigger heart failure if the organ comes under stress. The gene variants for the titin protein causes a heart condition known as dilated cardiomyopathy. According to Dr. Stuart Cook, a professor of clinical and molecular cardiology, dilated cardiomyopathy is where the heart enlarges, thus stretching and thinning the muscle. This eventually impair's the organ's ability to pump blood and oxygen around the body.

By doing a study on healthy rats with the faulty genes, researchers have discovered that the animals appeared healthy, but still contained the abnormal stress on the hearts, in which could trigger dilated cardiomyopathy. By doing a comparison on adults through MRI scans, analysts indeed found that 1% of the tested adults carried the titin gene variants. Surprisingly enough, the adults that carried the gene looked completely healthy.   

On a closer analysis through 3-D heart models of the carriers, researchers indeed detected a slightly enlarged heart in comparison to those without the gene variants. In addition, the pattern detected in gene variant carriers were shown to be similar in heart failure patients. Scientists also concluded that those with the titin gene variants may have silenced genes in which may not cause dilated cardiomyopathy directly but can still be triggered indirectly though genetic stress. If the results holds true for beyond the tested patients, patients who appear healthy may be in danger of not realizing that they carry the gene variant that causes dilated cardiomyopathy. With this research in mind, this can be very useful for genetic researchers in comparing other genetic mutations that act similar to the litin gene. By targeting the specific gene that may cause the disease, drugs can be made to silence the gene or altered to prevent the mutation from triggering the heart condition. Hopefully, these results can serve as the foundation for advancements in genetic analysis for conditions that are caused by genetic mutations.  

'Miracle' Gene Therapy To Cure Blindness

Dr. Jean Bennett, a gene therapist at the University of Pennsylvania, and her colleagues, began treating people who are blind with injections of a harmless virus that inserts good copies of genes that are defective in the patient. The genes were inserted into the cells of the retina. The retina is a light sensitive tissue at the back of the inner eyeball. Its job is to receive light and convert that light into neural signals to which the brain uses for visual recognition.

In 2007, researchers began conducting gene therapy clinical trials on ten patients with Leber’s congenital amaurosis Type 2. Leber’s congenital amaurosis Type 2 causes a degeneration of retinas thus limiting vision at birth and progressive blindness by mid life. The ten patients, ages ranging from 20-45, underwent gene therapy only in one of their eyes, the one which had the worst vision. After gene therapy for two or three years, researchers used an MRI to scan deep into the patients’ brains. The MRI showed the visual pathways in each patient was nearly as strong and healthy as a normal persons vision at that age. The MRI scan also showed the untreated eyes had much weaker visual pathways. This observation suggested that regaining sight also helped to rebuild the visual pathways in the brain. This revision is called brain plasticity.

The data collected from this study hinted that the patients’ visual pathways were in better condition after more and more time had elapsed since undergoing gene therapy. Because the pathways improve as more signals get sent through, Bennett and her colleagues are working on larger phase trials to determine whether their gene therapy can be used more widely as treatment.

This article and the research behind it were truly remarkable. The patients undergoing gene therapy are in their 20’s, and one patient was 45. This age range demonstrated visual pathways and brain plasticity could be improved at any age, not just young children. I found this article to be extremely uplifting and encouraging in the field of gene therapy. The ability to use gene therapy in repairing a person’s sight that had been nearly blind is just so moving.

MRI: The new biopsy in detecting cancer cells

According to a recent study done at John Hopkins University, researchers propose a possible new method to finding out whether cells are cancerous without undergoing a biopsy. The new method they tested in their study was the use of a MRI technique in test tube grown cells and mice. The positive side of using a MRI is that unlike CT scans or mammograms it not only detects tumors, but it also can detect sugar molecules shed by cancer cells, therefore indicating which cells are cancerous.

Jeff Bulte, a professor of radiological sciences at John Hopkins, based his research on prior studies which found glucose to be detected by a MRI technique based on its water interactions without dyes. According to Xiaolei Song, the lead author in this study, this new MRI technique helps us see the whole tumor cell, whereas with the dyes we could only see part of it. The researchers propose more research needs to be conducted before testing to see if this new technique could work in humans as well. I think this could be a huge step in cancer research if the continuing studies show to be effective. I am looking forward to see where this new research takes us. 

MRI based on a sugar molecule can tell cancerous from noncancerous cells.

A recent discussion of an article by John Hopkins Medicine states that the research done by Xiaolei Song, Ph.D., lead author, and the other scientists involved suggest that MRI has the possibility to replace tumor biopsies. Mammograms, CT scans, and other imaging tests have the ability to detect tumors, but invasive biopsies are still required to tell whether they are cancerous or not. This study discusses that an MRI could detect sugar molecules that are shed by the outer membrane of cancerous cells that are not on regular cells, so therefore a noninvasive technique to diagnosing a cancer. However, this technique has only been tested on test tube-grown cells and mice as of now. Jeff Bulte, Ph.D., a professor of radiology and radiological science in the Institute for Cell Engineering at the Johns Hopkins University School of Medicine, says that when cells become cancerous, some of the proteins on their outer membrane become less slimy by shedding the previously mentioned sugar; so, by tuning the MRI to detect the sugars on a particular protein, they are able to see the difference between the cancerous and noncancerous cells. The research done by Bulte is built upon research done by other scientists where they found a finely tuned MRI detected glucose based on the way it interacts with surrounding water molecules. Their next step is to see whether or not this technique can tell the difference between more types of cancerous tumors from benign ones in live mice, as well as if it is even possible to use this technique on humans.

Again, more testing on human subjects needs to be done in order to test this technique; however, this could be a great step towards cancer research. Invasive procedures are tiring and can take it's toll, so having a technique to discover whether or not a tumor is cancerous seems like a great idea to me. But just because it has worked on the lab grown cells and the mice, doesn't mean that it will work on humans. I'm interested to see future studies on this.

Marijuana's Long-Term Effects on the Brain

     On November 10, 2014, researchers at the Center for BrainHealth at the University of Texas at Dallas stated that the effects of chronic marijuana use effects on the brain may depend on age of first use and duration of use.  In a paper publushed today in the Proceedings of the National Academy of Sciences (PNAS), researchers for the first time comprehensively describes abnormailites in brain function due to excessive marijuana use.  Findings through MRI techniques show chronic marijuana users have smaller brain volume in to the orbitofrontal cortex, a part of the brain commonly associated with additcition.  The team studied 62 non-users and 48 adult marijuana users where on average the marijuana users consumed the drug three times per day.  Cognitive tests show that chronic marijuana users had lower IQ compared to age-and-gender-matched controls.  Ultimately it was concluded that although there was increased connectivity both structural and functional, eventually; however, the structural and connectivity of the brain starts degrading with prolonged marijuana use, stated by Dr. Sina Aslan, founder and president of Advance MRI, LLC and adjunct assistant professor at the University of Texas at Dallas. 

    Additionally, tests reveal that early onset marijuana users induce a greater structural and functional conectivity.  After approximately six to eight years of continued chronic use, brain connectivity begins to decline, and can be the result of why marijuana users claim to be "doing just fine."  It is still not known is these effects of marijuana use is a direct result or a predisposing factor.

     I found this article to be quite interesting and informative.  The topic of the effects marijuana has on the brain is unknown and is a reoccurring health topic in society.  With increase of marijuana users, the effects she be further investigated and presented to the public.

Main article: http://www.sciencedaily.com/releases/2014/11/141110161123.htm

Inherited Alzheimer's Damage Greater Decades Before Symptoms Appear

A study investigating an inherited form of Alzheimer's disease shows the progression of the disease may slow once symptoms appear and do significant damage. Professor Colin Masters, from the Florey Institutie of Neuroscience and Mental Health and University of Melbourne, found rapid neuronal damage beginning 10-20 years before symptoms appear. Professor Master stated, "There is actually a slowing of the neurodegeneration." Families with autosomal dominant Alzheimer's are vital because years before symptoms arise, they can be diagnosed. Information gathered will also help treatment for those with age-related Alzheimer's disease. 1% of Alzheimer's patients have the genetic type of the disease. The next step of the study is the clinical trail. They will monitor the subjects with MRIs, PETs, blood tests, and cerebrospinal fluid.
The fact that only 1% of all Alzheimer's patients are the genetic form is shocking. That is good news, though, because it means a person does not pass it on to their progeny. Improving the treatment is very important for both the genetic and non-genetic types of the disease.

Genetic condition that attacks the heart, brain, and nerves diagnosed using new MRI technique

Lysosome with sphingolipids 

Fabry Disease

What was once classified as a rare disease, is now becoming an epidemic in 1 in 1500 to 3000 people of Alberta, Canada. This disease is called Fabry disease. According to the Faculty of Medicine and Dentistry, “Fabry disease is a genetic metabolic condition that destroys the enzyme involved in fat metabolism.” When fat deposits accumulate in the body, it affects the heart, kidneys, and brain. Gavin Oudit had stated, “heart disease is the number one cause of death for patients with Fabry disease.” When you use an MRI or ultrasound to detect whether or not your body has been affected from the disease, sometimes this condition could look like other diseases. Richard Thompson and Kelvin Chow have developed a new system that better detects the damages and changes in early stages. This new MRI technique is called T1 mapping. The difference between T1 mapping and MRI/ultrasound is the scans can detect both the disease and severity of damage to the heart. This new technique can easily be programmed into MRI systems around the world and hopefully provide other advancements to detect other disease conditions.

(Article) http://www.medicalnewstoday.com/releases/266976.php

http://www.geneticdiseasefoundation.org/genetic-diseases/fabry-disease/?_kk=fabry%20disease&_kt=accdb0de-692e-4bce-8e8d-02be219b6310&gclid=CL6M95jSgLoCFYOk4Aod8QwAUQ