Key result
β-MYH7 gene screening identifies novel pathogenic mutations in ~8% of Indian patients with DCM.
Why the study?
Mutations in the beta-MYH7 gene have been detected in dilated cardiomyopathy across different populations, prompting evaluation in Indian patients.
What is the frequency of β-MYH7 gene mutations in Indian patients with dilated cardiomyopathy compared to healthy controls?
Case-Control (n=304)
What is the frequency of β-MYH7 gene mutations in Indian patients with dilated cardiomyopathy compared to healthy controls?
The study identifies novel pathogenic mutations in the β-MYH7 gene in Indian patients with dilated cardiomyopathy, providing insights into the molecular basis of the disease.
May support targeted β-MYH7 screening in Indian DCM; extends mutation spectrum but remains hypothesis-generating.
BACKGROUND: gene have also been detected in DCM from different populations. METHODS: gene in 137 Indian DCM patients and 167 ethnically matched healthy controls to detect the frequency of mutations and their association. RESULTS: Our study revealed 27 variations, of which 7 mutations (8.0%) were detected exclusively in Indian DCM patients for the first time. These included 4 missense mutations-Arg723His, Phe510Leu, His358Leu, and Ser384Tyr (2.9%); a frameshift mutation-Asn676_T-del (1.5%); and 2 splice-site mutations (IVS17+2T) T>G and (IVS19-1G) G>A (3.6%). Remarkably, all 4 missense mutations altered evolutionarily conserved amino acids. All 4 missense mutations were predicted to be pathogenic by 2 bioinformatics tools-polymorphism phenotyping v2 (PolyPhen-2) and sorting intolerant from tolerant (SIFT). In addition, the 4 homology models of β-MYH7-p.Leu358, p.Tyr384, p.Leu510, and p.His723-displayed root-mean-square deviations of ∼2.55 Å, ∼1.24 Å, ∼3.36 Å, and ∼3.86 Å, respectively. CONCLUSIONS: gene exclusively in Indian DCM patients (8.0%). Here, we demonstrated how each mutant (missense) uniquely disrupts a critical network of non-bonding interactions at the mutation site (molecular level) and may contribute to development of dilated cardiomyopathy (DCM). Therefore, our findings may provide insight into the understanding of the molecular bases of disease and into diagnosis along with promoting novel therapeutic strategies (through personalized medicine).
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Rani et al. (2021) conducted a case-control in Dilated Cardiomyopathy (n=304). Genetic screening for β-MYH7 gene mutations vs. Ethnically matched healthy controls was evaluated on Frequency of mutations and their association. Screening of the β-MYH7 gene in Indian patients with dilated cardiomyopathy identified 7 novel mutations (8.0%) exclusively in patients, which are predicted to be pathogenic.
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