Kim Shinuk
Gyedang College of General Education, Sangmyung University, Cheonan 31066, Chungcheongnam-do, Republic of Korea.
Biomedicines. 2024 Oct 18;12(10):2384. doi: 10.3390/biomedicines12102384.
An East Asian-specific 1382A>C polymorphism in the mitochondrial open reading frame of the 12S rRNA type-c results in an amino acid substitution from Lys (K) to Gln (Q) at the 14th amino acid residue. This study investigated the association between m.1382A>C polymorphism and sarcopenia, blood lipids, and mental health in older Korean adults. The study included 683 community-dwelling Korean adults (345 men and 338 women) aged 65 years and older. The m.1382A>C polymorphism was genotyped with a 7500 real-time PCR system. Handgrip strength (HGS) was measured, and appendicular skeletal muscle (ASM) mass was calculated. Demographics, blood lipids, falling risk, nutritional intake, cognition function, and depression were additionally measured. Men carrying the C allele had significantly higher ASM (21.6 ± 3.0 vs. 19.5 ± 2.2 kg, = 0.018), ASM/height (7.76 ± 0.76 vs. 7.14 ± 0.62 kg/m, = 0.012), lean mass (53.3 ± 6.2 vs. 46.5 ± 4.0 kg, < 0.001), left HGS (33.3 ± 5.0 vs. 28.9 ± 4.0 kg, = 0.010), and right HGS (35.6 ± 5.3 vs. 30.9 ± 4.3 kg, = 0.009) than men carrying the A allele. The genotype differences in ASM ( = 0.017), ASM/height ( = 0.011), lean mass ( < 0.001), left HGS ( = 0.010), and right HGS ( = 0.009) remained significant even after adjusting for all measured covariates. By contrast, no significant differences in other measured parameters were found between women carrying the A and C alleles. Our study findings indicate that the m.1382A>C polymorphism may be used as a genetic biomarker of age-related sarcopenia in older Korean men.
线粒体12S rRNA c型的开放阅读框中一个东亚特有的1382A>C多态性，导致第14个氨基酸残基处的氨基酸从赖氨酸（K）替换为谷氨酰胺（Q）。本研究调查了韩国老年人群中m.1382A>C多态性与肌肉减少症、血脂和心理健康之间的关联。该研究纳入了683名年龄在65岁及以上的韩国社区居民（345名男性和338名女性）。使用7500实时荧光定量PCR系统对m.1382A>C多态性进行基因分型。测量握力（HGS），并计算四肢骨骼肌（ASM）质量。另外还测量了人口统计学特征、血脂、跌倒风险、营养摄入、认知功能和抑郁情况。携带C等位基因的男性的ASM（21.6±3.0 vs. 19.5±2.2 kg，P = 0.018）、ASM/身高（7.76±0.76 vs. 7.14±0.62 kg/m，P = 0.012）、去脂体重（53.3±6.2 vs. 46.5±4.0 kg，P < 0.001）、左手握力（33.3±5.0 vs. 28.9±4.0 kg，P = 0.010）和右手握力（35.6±5.3 vs. 30.9±4.3 kg，P = 0.009）均显著高于携带A等位基因的男性。即使在对所有测量的协变量进行调整后，ASM（P = 0.017）、ASM/身高（P = 0.011）、去脂体重（P < 0.001）、左手握力（P = 0.010）和右手握力（P = 0.009）的基因型差异仍然显著。相比之下，携带A和C等位基因的女性在其他测量参数上未发现显著差异。我们的研究结果表明，m.1382A>C多态性可能用作韩国老年男性年龄相关性肌肉减少症的遗传生物标志物。
