Tags:Science & TechUPSC
For Prelims: Gene Mutation, Hypertrophic Cardio-Myopathy (HCM), MYH7 Gene, CSIR-CCMB, Lead Institution, Gene studied, Disease, Sample size
For Mains: Genetic basis of inherited diseases, precision medicine, population screening, cardiovascular disease burden in India
Source:
The Hindu
5 facts for one-day exams
SSC, railway, police and teaching exams ask direct questions like these.
- CCMB scientists discovered two rare MYH7 gene mutations linked to Hypertrophic Cardio-Myopathy (HCM).
- The study was published in the Journal of the American College of Cardiology: Asia.
- The MYH7 gene encodes beta-myosin heavy chain, a protein for heart muscle contraction.
- HCM causes abnormal thickening of the heart muscle and can lead to sudden cardiac death.
- The mutations were absent in healthy individuals and global population databases.
Why in the news?
CSIR-Centre for Cellular and Molecular Biology (CCMB) scientists have discovered two rare mutations in the MYH7 gene linked to Hypertrophic Cardio-Myopathy (HCM), a leading cause of sudden cardiac death. The study, published in JACC: Asia, can enable earlier diagnosis and population screening for inherited heart disease in India.
Summary
- Two rare 'likely pathogenic' mutations in MYH7 gene identified in 160 HCM patients from Telangana, absent in healthy individuals and global databases.
- HCM causes abnormal thickening of heart muscle, leading to breathlessness, chest pain and sudden cardiac death; affects people aged 35-64 years.
- Study published in Journal of the American College of Cardiology: Asia; collaboration of CCMB, Osmania University and AIG Hospitals.
Highlights
Rare MYH7 Mutations
Two rare 'likely pathogenic' variants in MYH7 gene found in HCM patients, absent in healthy controls and global databases.
Hypertrophic Cardio-Myopathy
HCM causes abnormal thickening of heart muscle, leading to heart failure and sudden cardiac death; a major health burden in India.
Path to Precision Medicine
Study enables earlier diagnosis, targeted treatment and family-based screening for inherited heart disease in Indian populations.
Background
Heart disease is the leading cause of death worldwide and a major health burden in India, especially among people aged 35-64. Hypertrophic Cardio-Myopathy (HCM) is an inherited condition where the heart muscle thickens abnormally, impairing relaxation and pumping. The MYH7 gene encodes beta-myosin heavy chain, a key force-generating protein in heart muscle cells.
Key Analysis and Impact
CCMB scientists analysed MYH7 in 160 HCM patients and 178 healthy individuals from Telangana. Of 34 genetic variants found, two rare mutations in critical protein regions were classified as 'likely pathogenic'. Both were absent in healthy controls and global databases, suggesting they may be enriched in Indian/South Asian populations. One mutation appeared in a 52-year-old woman with severe thickening and her 26-year-old son; the other in a 58-year-old man with family history of sudden death and his 24-year-old daughter.
Way Forward
The findings, published in JACC: Asia, can support precision diagnosis and population screening for inherited cardiovascular diseases in India. Family-based screening and earlier detection can reduce sudden cardiac deaths. Future studies may explore prevalence of these mutations in larger Indian cohorts and develop targeted therapies.
Background GK
Textbook concepts you need to understand this news
- Gene Mutation
- A permanent alteration in the DNA sequence of a gene, which may cause disease. Mutations can be inherited or acquired.
- Hypertrophic Cardio-Myopathy (HCM)
- Hypertrophic cardiomyopathy (HCM): A condition in which the heart muscle becomes abnormally thick (hypertrophied), making it harder for the heart to relax and pump blood; it is often genetic and can cause sudden cardiac death.
- MYH7 Gene
- A gene that provides instructions for making beta-myosin heavy chain, a protein essential for heart muscle contraction. Mutations in MYH7 are a common cause of HCM.
- CSIR-CCMB
- Council of Scientific & Industrial Research - Centre for Cellular and Molecular Biology, a premier Indian research institute based in Hyderabad, focused on cellular and molecular biology.
Facts to remember
Tap a card to see the answer. Try to recall it first.
How exams will ask this
- Data: Two rare MYH7 gene mutations found in 160 HCM patients; published in JACC: Asia
- Nodal Body: CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad
Don't make this mistake!
They may confuse MYH7 with other genes (e.g., MYBPC3, TNNT2) linked to HCM, or swap 'Hypertrophic Cardio-Myopathy' with 'Dilated Cardio-Myopathy'. Also, the study is from Telangana, not a national sample.
Write these in mains answers
- Genetic basis of inherited diseases, precision medicine, population screening, cardiovascular disease burden in India
Stuck? Get it in one tap
The heart is a muscle that pumps blood. In some people, the heart muscle becomes too thick, making it hard to pump. This is called hypertrophic cardiomyopathy (HCM) and can be inherited. Scientists at CCMB found two rare changes (mutations) in a gene called MYH7 that are linked to this disease. These changes were found in some patients but not in healthy people, so they can help test family members and support earlier treatment.
- CCMB scientists discovered two rare MYH7 gene mutations linked to Hypertrophic Cardio-Myopathy (HCM).
- The study was published in the Journal of the American College of Cardiology: Asia.
- The MYH7 gene encodes beta-myosin heavy chain, a protein for heart muscle contraction.
- HCM causes abnormal thickening of the heart muscle and can lead to sudden cardiac death.
- The mutations were absent in healthy individuals and global population databases.
- Science and Technology: Biotechnology and genetics
- Health: Non-communicable diseases
Related concepts: Gene Mutation, Hypertrophic Cardio-Myopathy (HCM), MYH7 Gene, CSIR-CCMB
Practice questions
Pick an answer, then read the explanation.
- Q1Easy
Which institute led the discovery of rare MYH7 gene mutations linked to Hypertrophic Cardio-Myopathy?
Explanation: The discovery was led by scientists from CSIR-Centre for Cellular and Molecular Biology (CCMB) in collaboration with Osmania University and AIG Hospitals. IISc, NII and AIIMS are other premier institutes but were not involved in this study.
- Q2Hard
Consider the following statements:
- 1.The MYH7 gene encodes a protein called beta-myosin heavy chain, which is essential for heart muscle contraction.
- 2.Hypertrophic Cardio-Myopathy (HCM) causes the heart muscle to become abnormally thin, leading to reduced pumping efficiency.
- 3.The two rare mutations identified were present in healthy individuals and in global population databases.
Which of the statements given above is/are correct?
Explanation: Statement 1 is correct: MYH7 encodes beta-myosin heavy chain, crucial for heart contraction. Statement 2 is incorrect: HCM causes abnormal thickening, not thinning, of the heart muscle. Statement 3 is incorrect: the mutations were absent in healthy individuals and in major global population databases.
- Q3Medium
How many Hypertrophic Cardio-Myopathy (HCM) patients were analysed in the CCMB study that identified rare MYH7 gene mutations?
Explanation: The study analysed the MYH7 gene in 160 patients with HCM and 178 healthy individuals from Telangana.
- Q4Medium
What is the primary significance of identifying rare MYH7 gene mutations in Indian HCM patients?
Explanation: The findings can pave the way for earlier diagnosis, targeted treatment and family-based screening. Option A is wrong because heart disease has both genetic and environmental causes. Option C is wrong because the study found only two rare mutations, not a single cause for all cases. Option D is wrong because the study opens new avenues, not closes them.
Frequently asked questions
1. What is the MYH7 gene and what does it do?
The MYH7 gene provides instructions for making beta-myosin heavy chain, a protein that generates the force required for heart muscle contraction.
2. What is Hypertrophic Cardio-Myopathy (HCM)?
HCM is an inherited heart disease where the heart muscle becomes abnormally thick, making it harder for the heart to relax and pump blood efficiently, and can lead to sudden cardiac death.
3. Which institute discovered the rare mutations linked to HCM?
Scientists from CSIR-Centre for Cellular and Molecular Biology (CCMB), Hyderabad, in collaboration with Osmania University and AIG Hospitals, discovered the two rare MYH7 gene mutations.
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- Original5 November 2026 · Read story
