Mitochondrial DNA Part A

DNA Mapping, Sequencing, and Analysis

Volume 28, 2017 - Issue 3

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Original Article

Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees

Shipeng XieDepartment of Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China;

Juanjuan ZhangInstitute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; ;School of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Jiji SunInstitute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China;

Minglian ZhangDepartment of Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China;

Fuxin ZhaoSchool of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China; ;Attardi Institute of Mitochondrial Biomedicine, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Qi-Ping WeiDepartment of Ophthalmology, Dongfang Hospital, Beijing University of Chinese Medicine and Pharmacology, Beijing, China;

Yi TongSchool of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Xiaoling LiuSchool of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Xiangtian ZhouSchool of Ophthalmology and Optometry, Wenzhou Medical University, Wenzhou, Zhejiang, China;

Pingping JiangInstitute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; ;Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China;

Yanchun JiInstitute of Genetics, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China; Correspondence[email protected]

Min-Xin GuanDepartment of Ophthalmology, Xingtai Eye Hospital, Xingtai, Hebei, China; ;Collaborative Innovation Center for Diagnosis and Treatment of Infectious Diseases, Zhejiang University, Hangzhou, China; ;Division of Pathology, Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA

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Citations (7)

Keep up to date with the latest research on this topic with citation updates for this article.

Read on this site (1)

Lingyun Yu & Guangjun Wang. (2017) Complete mitochondrial genome of Ctenopharyngodon idella var. Gold grass carp and its intraspecific comparison. Mitochondrial DNA Part A 28:3, pages 372-374.
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Articles from other publishers (6)

Shun Yao, Xiaoli Zhang, Xiuxiu Jin, Mingzhu Yang, Ya Li, Lin Yang, Jin Xu & Bo Lei. (2022) Proteomic Profiling Reveals Increased Glycolysis, Decreased Oxidoreductase Activity and Fatty Acid Degradation in Skin Derived Fibroblasts from LHON Patients Bearing m.G11778A. Biomolecules 12:11, pages 1568.
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Jie Shuai, Jian Shi, Ya Liang, Fangfang Ji, Luo Gu & Zhilan Yuan. (2021) Mutational analysis of mitochondrial tRNA genes in 138 patients with Leber’s hereditary optic neuropathy. Irish Journal of Medical Science (1971 -) 191:2, pages 865-876.
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Li-Jing Zhao, Zhi-Li Zhang & Yong Fu. (2022) Novel m.4268T>C mutation in the mitochondrial tRNA Ile gene is associated with hearing loss in two Chinese families . World Journal of Clinical Cases 10:1, pages 205-216.
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Ke Li, Lijun Wu, Jianjiang Liu, Wei Lin, Qiang Qi & Tianlan Zhao. (2020) Maternally Inherited Diabetes Mellitus Associated with a Novel m.15897G>A Mutation in Mitochondrial tRNA Thr Gene . Journal of Diabetes Research 2020, pages 1-11.
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Galya V. Klink, Andrey V. Golovin & Georgii A. Bazykin. (2017) Substitutions into amino acids that are pathogenic in human mitochondrial proteins are more frequent in lineages closely related to human than in distant lineages. PeerJ 5, pages e4143.
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Dekang Gan, Mengwei Li, Jihong Wu, Xinghuai Sun & Guohong Tian. (2017) Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China. Journal of Ophthalmology 2017, pages 1-5.
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Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees

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Mitochondrial haplogroup D4j specific variant m.11696G > a(MT-ND4) may increase the penetrance and expressivity of the LHON-associated m.11778G > a mutation in Chinese pedigrees

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