Gout is in Your Genetics

    A February 13th article from Science Alert claims gout has less to do with lifestyle choices and more with genetics. The Mayo Clinic describes gout as a painful and complex form of arthritis that arises from high levels of uric acid in the bloodstream. Often, the symptoms arise overnight and suddenly. Intense joint pain, inflammation and redness, and limited range of motion are all symptoms of gout, and often something as light as a bedsheet on the affected area is unbearable. The Mayo Clinic lists one of the main causes of gout as diet especially increased intake of purine-rich seafoods, alcoholic beverages, and drinks sweetened with fruit sugar. However, the Science Alert article argues against the hypothesis that lifestyle choices are the main cause of gout. Instead, they present research that shows 120,295 people with gout had the same variations at 377 specific DNA regions which are now thought to have a large impact on developing gout. The 377 specific DNA regions identified in the new study include 149 regions that had not previously been linked to gout. The researchers maintain that there are still undiscovered genetic links to the disease that have yet to be discovered. The connection of genes to gout formation allows new research to be done regarding how gout can be treated with genetics as the basis for treatment. 

    Personally, I can’t wait to tell my dad about this research because he stopped eating shrimp about a decade ago after he developed gout “from the shrimp.” However, this new study demonstrates that he might have had an underlying condition that made him more susceptible to gout and his consumption of shrimp might not have been the reason for his gout flareup. I think this new explanation will hopefully allow more people to get treatment for their chronic gout. The article mentions that some people do not seek out medical help when they experience gout because they are ashamed of their lifestyle choices, but having a genetic explanation for the formation of gout would be out of the patient’s control, so they may be more willing to seek out a doctor’s help. As I mentioned earlier, my dad had a few cases of gout, so knowing that there is a genetic link, now I am curious if I have some of the alleles that increase the risk for gout development. 

Links

https://www.sciencealert.com/huge-study-shows-where-gout-comes-from-its-not-what-we-thought

https://www.mayoclinic.org/diseases-conditions/gout/symptoms-causes/syc-20372897

New Clues to Disease Causing Genes

            Scientists in Iceland have discovered “previously unknowngene mutations” that cause many diseases such as Alzheimer’s disease, heart disease, and gallstones.  The project is referred to as Decode.  According to Daniel G. MacArthur, a geneticist at Massachusetts General Hospital, they have managed to get a larger chunk of genetic information of an entire population than any other country in the world.  They were able to describe the sequence of genomes 2,636 Icelanders.

            These diseases are caused by a number of genetic mutations, unlike cystic fibrosis, which is why they are so common.  The genetic mutations can code for anything from irregular heartbeat to heart disease and breast cancer.  Scientists have tested those with genetic mutations to see which diseases they could code for but also those that lack working versions of the genes, known as “human knockouts”.  Nearly eight percent of Icelanders have knockout genes, 1,171 genes were identified.

            Scientists are testing thousands of genetic (and partial genetic) information from people both with and without these genes in order to find out what causes these genetic mutations and diseases.  They have a technique called imputation that allows them to read the full genome that have never been tested or submitted their information.  With this technique, scientists can identify which people have a gene that codes for a certain disease such as breast cancer or Alzheimer’s.  Although this information has to be kept from Icelanders at this time, it is a huge breakthrough in the genetics movement.

The research done by these scientists is so important because it can help point us towards potential treatments and cures to these diseases.  Being able to discover the genes that cause genetic mutations and diseases would make it easier for an early diagnosis.  Decode declared bankruptcy but was rebought, allowing the research to continue.  I believe the scientists in this project should not only continue their research, but expand it.  If their experiments continue the way they have been, the cures to many common diseases could be closer than we think.