Key result
Two highly conserved MYH7 gene mutations, Thr446Pro and Phe468Leu, were identified in 2 of 18 autopsy cases of hypertrophic cardiomyopathy-related sudden death, while none were found in 20 control cases.
Why the study?
There have been few reports of mutations in the beta-myosin heavy chain (MYH7) gene in hypertrophic cardiomyopathy, which is associated with sudden cardiac death.
Does MYH7 gene mutation screening identify pathogenic variants in Chinese patients with fatal hypertrophic cardiomyopathy?
Case-Control (n=38)
No
Does MYH7 gene mutation screening identify pathogenic variants in Chinese patients with fatal hypertrophic cardiomyopathy?
The identification of Thr446Pro and Phe468Leu mutations in the MYH7 gene in Chinese patients with fatal hypertrophic cardiomyopathy highlights their potential role in sudden cardiac death and importance for forensic and clinical screening.
Answers are grounded in this paper and cite their sources.
Supports potential MYH7 variant contribution to fatal HCM in Chinese patients; leaves open screening utility pending larger studies.
Background: There have been few reports of mutations in the beta-myosin heavy chain ( MYH7 ) gene in hypertrophic cardiomyopathy (HCM), which is associated with sudden cardiac death caused by HCM. This study aimed to screen the mutation sites in the sarcomeric gene MYH7 in Chinese patients with HCM. We also planned to analyze the pathogenicity of the mutation site as well as its significance in clinical and forensic medicine. Methods: From January 2006 to June 2017, autopsy cases were collected from the Department of Pathology, the Affiliated Hospital of Qingdao University. The experiment was to detect MYH7 gene status in formalin-fixed paraffin-embedded tissues from 18 independent autopsy cases who suffered HCM related sudden death (fatal HCM) and 20 cases without cardiomyopathy. Common mutation exon fragments of MYH7 gene were amplified by polymerase chain reaction. The end-of-deoxygenation method and gene cloning method were further performed to analyze the mutation sites. Homologous comparison among mutant sites was conducted using BLAST online database. Results: The 1336th nucleotide of MYH7 gene at exon 14 was converted from T to G in one HCM case, resulting in the conversion of threonine (Thr) at position 446 to proline (Pro). In another case, the 1402th nucleotide at exon 14 was converted from T to C, resulting in the conversion of phenylalanine (Phe) at position 468 to leucine (Leu). Homologous comparison results showed that the two amino acid residues of Thr446 and Phe468 are highly conserved among different species. Conclusions: Our results showed fatal HCM harbored mutations of Thr446Pro and Phe468Leu in the MYH7 gene. It is significant for clinical and forensic medicine to further explore the functions and detailed mechanisms of these mutations.
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Liu et al. (2019) conducted a case-control in Hypertrophic cardiomyopathy (HCM) (n=38). MYH7 gene mutations vs. Autopsy cases without cardiomyopathy (violent death controls) was evaluated on Detection of MYH7 gene mutations. Two highly conserved MYH7 gene mutations, Thr446Pro and Phe468Leu, were identified in 2 of 18 autopsy cases of hypertrophic cardiomyopathy-related sudden death, while none were found in 20 control cases.
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