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Genetic link to cardiomyopathy uncovered

A recent study published in Science Advances has identified a genetic link between diabetes and cardiomyopathy in South Asians.

heart donors concept. abstract organ transplantation. A human heart in woman's hand. Saving lives hopelessly sick. Complex surgical operations. International crime. Assassins in white coats. isolated on black background. Image credit: Aleksandra Kuznecova / 123rf. heart damage concept. cardiomyopathy
Image credit: Aleksandra Kuznecova / 123rf

The research was led by Dhandapany Perundurai, investigator at the Centre for Cardiovascular Biology and Disease (CCBD) at Bengaluru’s Institute for Stem Cell Science and Regenerative Medicine (DBT-inStem). As part of the study, 2,552 cardiomyopathy patients were genetically screened for variants of a gene involved in metabolism named “Adiponectin receptor protein 1 (ADIPO1R).”

The study found that no variants of the gene occurred in healthy individuals, indicating that the gene could elevate the risk of developing cardiomyopathy. ADIPO1R is a receptor for the hormone adiponectin, which regulates glucose and lipid metabolism in human cells. This implicates diabetes as also being a major risk factor.

The theory was tested on cardiomyocytes – cells involved with heart function – to assess the impact of the overexpression of the dysfunction gene variants. It was found that in these cells there was a dysregulation of glucose metabolism (similar to the effects of diabetes) as well as enlargement of the cells. Further tests revealed genetic markers for cardiomyopathy were found to be elevated in the affected cells.

The study provides a firm basis upon which to indicate the gene variant as a risk factor for cardiomyopathy. With the effects of the dysfunctional gene mimicking that of diabetes so closely, this would also suggest a genetic basis for the link between cardiomyopathy and diabetes — which as of yet has been observed, but not understood fully at a genetic level. 

Knowledge of genetic disease is limited in India. As Health Issues India previously reported, “more genetic study is warranted within the Indian population. India represents almost twenty percent of the world’s population — and is on track to become the world’s most populous nation in the coming decades. Despite this, only 0.2 percent of fully mapped genomes in global databanks are of Indian origin.”

Success has been had in the past regarding genetic studies of the Indian population. One Genome Wide Association Study (GWAS) found that there are six unique alleles present among the Indian population that causes a genetic predisposition to diabetes. This underlines at least part of the cause of high diabetes rates among Indians — other causes being lifestyle factors such as diets rich in sugar and sedentary lifestyles with a limited degree of exercise.

The team involved with the study have suggested the gene to be a screening target that could provide an early warning for those susceptible to cardiomyopathy. This is the case for many genetic diseases across India. With more data available, and more genes unique to the Indian population uncovered, screening efforts could be a major boon in reducing noncommunicable disease in the country.

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