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Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People
Aya Miura1, Takuma Yamamoto1, Kazuhisa Funayama2
1Department of Legal Medicine, Hyogo Medical University.
International Heart Journal
|January 31, 2024
Summary
Sudden unexpected death in the young (SUDY) is often unexplained. This study identified 60 genetic variants in cardiac genes using next-generation sequencing (NGS) in Japanese SUDY cases, aiding genetic counseling.
Area of Science:
- Genetics
- Cardiology
- Forensic Pathology
Background:
- Sudden unexpected death in the young (SUDY) presents a significant challenge due to limited understanding of its genetic underpinnings.
- Postmortem genetic analysis is crucial for familial information, genetic counseling, and clinical follow-up in SUDY cases.
Purpose of the Study:
- To investigate genetic variations associated with SUDY in a Japanese cohort.
- To utilize next-generation sequencing (NGS) for molecular analysis in SUDY cases.
Main Methods:
- Autopsy and DNA sequencing of 18 SUDY cases (16 males, 2 females; ages 15-47) using a panel of 168 genes.
- Analysis of identified genetic variants within cardiac disease-related genes.
Main Results:
- Sixty variants were identified in cardiac disease-related genes among the 18 SUDY cases.
- Multiple genetic variants were found in several cases, with some exhibiting cardiac phenotypes.
Conclusions:
- NGS-based genetic variant identification offers critical insights into the pathogenicity of sudden death in the young.
- Findings support the role of genetic factors in SUDY and highlight the importance of molecular autopsy.
Keywords:
ArrhythmiaMetabolic autopsyMolecular autopsyNext-generation sequencingPostmortem genetic analysisSudden deathMore Related Videos
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