A New Genetic Mutation Has Been Connected to Pulmonary Arterial Hypertension

Medical professionals have already discovered a number of genes that play a role in pulmonary arterial hypertension (PAH), but according to LabRoots, they have found a new one. The ABCC8 gene was recently connected to PAH and further studied by a group of researchers at the Universidade de Vigo in Spain.

About Pulmonary Arterial Hypertension (PAH)

PAH is a form of high blood pressure that causes the pulmonary arteries of the lungs to progressively thicken and harden. The heart then has to work harder to get blood to the lungs, which can result in damage and possibly failure. Symptoms may not appear until there has been considerable progression, but when they do appear they include fainting, shortness of breath, dizziness, fatigue, chest pain, and swelling in the ankles and legs. These are caused by a mutated BMPR2, which plays a role in the growth and death of cells. It is passed down in an autosomal dominant pattern. In cases of secondary hypertension, the cause is another disease or the use of certain street drugs.

About the Gene

ABCC8 is responsible for encoding part of an ion channel that is normally connected to type 2 diabetes. As diabetes is often associated with cardiovascular disease, it is not surprising that this gene can be tied to PAH.

In order to fully understand ABCC8’s role in PAH, researchers evaluated data from 624 PAH patients. They looked for those with a mutated ABCC8 gene and examined them to see if they were the cause of the disease or unique in any way.

Within the group, only 11 patients had the mutation, five of which were associated with diabetes. Further analysis showed that the gene did not impact the final protein in any way that was significant. However, the team of researchers did find that two of the patients had mutations that were disease causing, with another six that could play a role in PAH.

There is a need for further research, but it may be difficult due to the rarity of PAH. This is a problem in the rare disease field; it is difficult to conduct a study because there is a lack of patients, resources, and knowledgeable researchers. Hopefully more research will be done on this gene soon, as it could lead to a better understanding of PAH.

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