Bengaluru Researchers Find Gene Linking Heart Risk, Obesity And Sleep Apnea

Scientists at the Institute for Stem Cell Science and Regenerative Medicine in Bengaluru have identified a single gene linked to a cluster of three serious health conditions, dilated cardiomyopathy, obesity and obstructive sleep apnea, collectively referred to as DOSA. These findings could change how clinicians understand intersecting cardiometabolic and respiratory disorders and prompt earlier genetic screening to identify individuals at risk. Dilated cardiomyopathy (DCM) weakens the heart's ability to pump blood effectively, leading to fatigue, shortness of breath and heart failure. Obesity is a major global public health problem associated with a slew of complications, including diabetes and cardiovascular disease. Obstructive sleep apnea (OSA), a condition where breathing repeatedly stops during sleep, increases risk of hypertension, metabolic dysfunction and cardiac stress.

Although these disorders often coexist in the same individual, a common genetic origin has long been suspected but not formally identified until now. The Bengaluru team's research points to a single genetic mutation affecting cellular pathways that underlie all three disorders, an insight that may help clinicians predict and prevent complications earlier in high-risk groups.

This discovery could accelerate genetic testing strategies and interventions tailored to individuals carrying the implicated gene variant.

What Is DOSA And How Is A Gene Linked?

The new research, reported by Deccan Herald, describes a genetic syndrome where a single gene appears to drive the triad of clinical features: dilated cardiomyopathy, increased body weight and obstructive sleep apnea. Scientists responsible for this finding have named the condition DOSA, shorthand derived from the three main diseases it unites at a molecular level.

Although the precise gene was not named in the initial media report, similar work reported in independent summaries suggests the gene involved affects potassium channel regulation and metabolic pathways, hinting at a molecular mechanism that could alter heart muscle function, metabolic balance and breathing regulation.

DOSA's genetic origin marks it as a monogenic syndrome, a condition arising predominantly from variants in a single gene, rather than the usual polygenic or lifestyle-driven disorders that characterise these diseases independently.

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Why These Conditions Often Co-Occur

Individually, dilated cardiomyopathy, obesity and OSA have complex causes, many of which involve both genetic and environmental components.

1. Dilated Cardiomyopathy (DCM): A condition where the heart's chambers stretch and weaken, reducing its ability to pump blood. Genetic causes are significant in many cases, with multiple genes previously identified as risk factors.
2. Obesity: While lifestyle and environment contribute substantially, there is strong evidence for genetic susceptibility in body weight regulation and fat distribution.
3. Obstructive Sleep Apnea (OSA): OSA has a multifactorial origin, anatomical, behavioural and metabolic, but genetic studies suggest a heritable component, especially related to traits such as obesity and airway anatomy.

What is particularly notable about DOSA is that a single genetic variant appears to influence three major pathways, cardiac muscle structure, metabolic regulation and airway control during sleep, explaining why these conditions, often seen together in clinical settings, may not simply be coincidental.

Who Is At Risk And What It Means Clinically

Although this research is early and further peer-reviewed publications are still awaited, the identification of a monogenic cause for DOSA has major implications:

At-Risk Populations

• Individuals with family histories of early heart failure, severe obesity or sleep apnea without classic lifestyle risk factors
• Those with childhood onset of more than one of these conditions
• Populations with known high prevalence of cardiometabolic disorders, such as South Asians

Clinical Benefits Of DOSA Gene Discovery

• Early genetic screening could identify high-risk individuals before symptoms become severe
• Genetic counselling may help families understand inherited risk and manage lifestyle factors more effectively
• Potential for precision medicine approaches if mutations alter drug targets or metabolic pathways

Importantly, this finding underscores the need for clinicians to consider shared genetic roots when encountering patients with overlapping cardiometabolic and respiratory symptoms.

The Broader Scientific Context

Genetic research increasingly shows that many chronic diseases once thought to be separate may share underlying molecular mechanisms. For example, genome-wide analyses have shown shared genetic loci between sleep apnea and cardiovascular diseases.

Additionally, studies highlight how obesity and OSA share a substantial genetic basis, with specific loci influencing both traits.

Understanding how single gene variants can impact multiple systems offers a powerful window into disease biology, helping researchers unravel why conditions frequently cluster together and how they can be prevented or treated more effectively.

The Bengaluru discovery of a gene responsible for the "DOSA" syndrome, linking dilated cardiomyopathy, obesity and sleep apnea, represents a major advance in genetic medicine. While further research is needed to confirm exactly how the implicated gene affects each condition, the concept of a shared genetic origin for these seemingly distinct diseases could change how physicians screen, counsel and treat patients.

Early identification of gene carriers could enable personalised monitoring and early intervention, improving outcomes for individuals at high risk of heart failure, metabolic dysfunction and sleep-related breathing disorders. Future publications and clinical trials will be critical to turning this discovery into practical tools for doctors and patients alike.

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