Genetic Link to Heart Disease and Diabetes in South Asians Discovered | India News

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BENGALURU: Scientists and doctors in several cities in India and the United States claim to have provided the first evidence of a shared genetic link between cardiomyopathy (condition of the heart muscle causing failure) and metabolic syndrome (high blood sugar, excess body fat around the waist and abnormal cholesterol levels) in South Asians.
This information, according to the team, can help with early identification and development of preventive strategies. While recent epidemiological and clinical studies suggest that around 10% of patients with cardiomyopathy coexist with diabetes, the genetic link behind it is less understood.
Results published in “Science Advances”, an international peer-reviewed journal, by the team led by Dhandapany Perundurai, researcher at the Center for Cardiovascular Biology and Sickness (CCBD) at the Institute for Stem Cell Science and Regenerative Medicine (DBT-inStem) in Bengaluru, provide proof.
What they found
Perundurai’s lab examined 2,552 cardiomyopathy patients with and without diabetes and identified new and ultra-rare variants in a metabolic-related gene called “Adiponectin receptor protein 1 (ADIPO1R)”.
“It is important to note that these genetic variants were absent in 1,800 healthy individuals specific to South Asia. ADIPO1R is a receptor for the hormone adiponectin, which regulates glucose and lipid metabolism in human cells, ”the team said.
To understand the role of these variants in heart disease, the researchers used cardiomyocytes – cells involved in heart function – and showed significant disturbances in glucose metabolism and increased cell size with increased expression of genetic markers associated with cardiac hypertrophy.
“As each of these variants affects a single signaling molecule and its biological process, therapeutic strategies must be tailored depending on the nature and type of variant associated with this disease,” explained Perundurai.
“A simple genetic test would help identify individuals who are very susceptible to heart muscle disorders. Early diagnosis of an ‘at risk’ population will help prescribe appropriate preventive health plans to mitigate the harmful effects associated with this disease, ”added Perundurai.


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