机构：[1]Department of Medical Genetics, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China门急诊片医学遗传科云南省第一人民医院[2]The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China云南省第一人民医院[3]National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Kunming, Yunnan, China
Background: Maternally inherited hearing loss has been associated with mitochondrial genes, including MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE. Among these genes, MT-RNR1 is known to be a hotspot for pathogenic variants related to aminoglycoside ototoxicity and nonsyndromic hearing loss. However, the frequency and spectrum of variants in these genes, particularly in multi-ethnic hearing loss patients from Southwestern China, are still not fully understood. Methods: In this study, we enrolled 460 hearing loss patients from various ethnic backgrounds (Han, Yi, Dai, Hani, etc.) in Southwestern China. Next-generation sequencing was used to analyze the mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes. Subsequently, bioinformatical methods were employed to evaluate the identified variants. Results: Among the patients with hearing loss, we identified 70 variants in MT-RNR1 (78.6 %, 55/70), MT-TL1 (4.3 %, 3/70), MT-TS1 (4.3 %, 3/70), MT-TK (7.1 %, 5/70) and MT-TE (5.7 %, 4/70) genes. We found that 15 variants were associated with hearing loss, including m.1555 A > G and m.1095 T > C. Additionally, we discovered three reported mitochondrial variants (m.676 G > A, m.7465 insC, and m.7474 A > G) newly correlated with hearing loss. Notably, certain pathogenic variants, such as m.1555 A > G, displayed non-consistent distributions among the multi-ethnic patients with hearing loss. Furthermore, the number of variants associated with hearing loss was higher in the Sinitic group (n = 181) and Tibeto-Burman group (n = 215) compared to the Kra-Dai group (n = 38) and Hmong-Mien group (n = 26). Conclusions: This present study revealed the distribution of mitochondrial variants linked to hearing loss across various ethnic groups in Southwestern China. These data suggest a potential correlation between the distribution of mitochondrial variants associated with hearing loss and ethnic genetic backgrounds.
基金：
National Natural Science Foundation of China [82360331, 81860190]; Yunnan Provincial Talents Program for Top Young Talents [YNWR-QNBJ-2018-128]; Joint Special Research Funds of Kunming Medical University [2017FE468 [-010]]; Foundation of Medical Discipline Leaders Program of Health and Family Planning Commission of Yunnan Province [D-201668]; Personnel Training Project of Yunnan Province [2017HB043]
第一作者机构：[1]Department of Medical Genetics, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China[2]The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China
共同第一作者：
通讯作者：
通讯机构：[1]Department of Medical Genetics, The First People’s Hospital of Yunnan Province, Kunming, Yunnan, China[2]The Affiliated Hospital of Kunming University of Science and Technology, Kunming, Yunnan, China[3]National Health Commission Key Laboratory of Healthy Birth and Birth Defect Prevention in Western China, Kunming, Yunnan, China[*1]Department of Medical Genetics, the First People’s Hospital of Yunnan Province (the Affiliated Hospital of Kunming University of Science and Technology), No.157 Jinbi Road, Kunming, 650032, Yunnan, China.[*2]the First People’s Hospital of Yunnan Province (the Affiliated Hospital of Kunming University of Science and Technology), No.157 Jinbi Road, Kunming, 650032, Yunnan, China.[*3]Department of Medical Genetics, the First People’s Hospital of Yunnan Province (the Affiliated Hospital of Kunming University of Science and Technology), No.157 Jinbi Road, Kunming, 650032, Yunnan, China.
推荐引用方式(GB/T 7714)：
Zhou Shiyu,Chen Menglan,Pei Jiahong,et al.Distribution of mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes variants associated with hearing loss in Southwestern China[J].INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY.2024,181:doi:10.1016/j.ijporl.2024.111979.
APA：
Zhou, Shiyu,Chen, Menglan,Pei, Jiahong,Zhang, Chen,Ren, Xiaofei...&Li, Yunlong.(2024).Distribution of mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes variants associated with hearing loss in Southwestern China.INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY,181,
MLA：
Zhou, Shiyu,et al."Distribution of mitochondrial MT-RNR1, MT-TL1, MT-TS1, MT-TK and MT-TE genes variants associated with hearing loss in Southwestern China".INTERNATIONAL JOURNAL OF PEDIATRIC OTORHINOLARYNGOLOGY 181.(2024)
