Mutation causing Milky White Blood

Three siblings were discovered to have milky white blood due to a genetic disorder. The blood was full of fat that caused the coloration. The siblings, two of which were a set of twins, were born to a first cousin couple that are part of a Pennsylvania Dutch family. As teens the siblings experienced abdominal pain and when they sought medical help they were diagnosed with hypertriglyceridemia. This disorder causes an increase of triglycerides in the blood. However, further testing recently done in their fifties showed that they actually have an ultra rare condition known as familial chylomicronemia syndrome causing very high levels of triglycerides causing the color of the blood to turn milky white. 

Figure above shows the molecular form of a triglyceride

The siblings have long attempted to control their triglyceride levels to alleviate the symptoms of abdominal pain, fever and vomiting.  There was only one gene found to cause the condition when normally there are multiple. The gene usually breaks down triglycerides in the blood. Each sibling was found to have two copies of the mutated gene which must have been passed down from each parent. The Particular gene mutation found in the children has never been seen before. Their condition can be helped by a low fat diet.

I was intrigued by the title of this article “A Rare Genetic Disorder Turned These Siblings' Blood 'Milky' White” because I had no idea that this could occur. I found it interesting that these patients blood had so much fat in it that it became a white color. I was surprised that this condition could be alleviated by a controlled diet.

https://www.livescience.com/siblings-with-milky-blood.html

https://pancreasfoundation.org/patient-information/ailments-pancreas/familial-chylomicronemia-syndrome/

Fat keeps you healthy?

Researchers at Columbia University Medical Center published an article on Science Daily in which scientist have discovered a new particle in fat that works with the immune system to rejuvenate fat and help fight infections. Adipocytes are specialized cells found in fat tissue that stores excess calories as triglycerides and breaks them down to smaller fatty acids and releases them to the blood steam to be used as energy. However, it was discovered that fat tissues also contain many immune cells, including a large number of macrophages. The macrophages take up the lipid-filled particles, called adipocyte exosomes (AdExos) which control the development of immune cells. I researched more information of adipocytes and found that they produce antimicrobial peptides, pro-inflammatory cytokines, ad adipokines that work together to combat infection, modify the function of immune cells and maintain metabolic homeostasis.

Figure 1: Obese Adipocytes release more exosomes than lean adipocytes

Scientists aren't sure how this is happening, but believe it is similar to the mechanism of bone, where osteoclasts breakdown bone to calcium and phosphate, which is used to make new bone. The function of AdExo was studied only in mice, therefore, I believe more research is required to investigate to see if these particles appear in humans, and whether they contribute to lipids we measure in circulation and in metabolic diseases.

When It Comes To Heart Attacks, Less Seems To Be More

In the United States alone, heart disease is the number one cause of death in both men and women. Although both a poor diet and not enough exercise are large contributing components to heart disease, scientists have begun to discover that genetics also plays a large role in decreasing a person’s chance of having a heart attack. Specifically, people who have a mutation on a gene called ANGPTL4 run a 50% lower risk of having a heart attack. They also had lower levels of triglycerides in the blood.

In the study conducted, researchers analyzed 13,000 genes from 200,000 patients, looking for correlations between ANGPTL4 mutations and coronary artery disease (CAD). Patients who had the mutation had not only a much lower incidence of heart attacks, but also had lower levels of triglycerides. It is relevant to note that ANGPTL4 inhibits the lipoprotein lipase (LPL) enzyme, which breaks down triglycerides. This lead the researchers to hypothesize that if ANGPTL4 is not working, then the LPL enzyme is not inhibited, thus lowering the triglycerides found in the blood. Over time this leads to less fat deposits in the arteries, significantly reducing a person’s heart disease risk.

These findings lead to two important conclusions that are very valuable to clinical medical practice. First is, it highlights the importance of healthcare professionals emphasizing lowering triglycerides, and not just cholesterol. Secondly, the discovery of this ANGPTL4 mutation could lead to a new target for medications. It also makes me want to run out and get my blood tested! It is really interesting overall what a big contribution genetic research can/is contributing to modern medicine. Hopefully in a decade or two, targeted medicines will be available for almost all the conditions that affect humans. However, the topic of is they will be affordable or not is a whole other discussion (#FeelTheBern!)

http://www.popsci.com/genetic-mutation-could-save-you-from-heart-attack 
http://www.nejm.org/doi/full/10.1056/NEJMoa1507652?query=featured_cardiology&