对南印度莱伯遗传性视神经病变患者的整个线粒体基因组进行分析。

Whole mitochondrial genome analysis in South Indian patients with Leber's hereditary optic neuropathy.

机构信息

Department of Genetics, Dr. G. Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Madurai, India.

Neuro Ophthalmology Clinic, Aravind Eye Hospital, Madurai, India.

出版信息

Mitochondrion. 2017 Sep;36:21-28. doi: 10.1016/j.mito.2016.10.006. Epub 2016 Oct 28.

DOI:10.1016/j.mito.2016.10.006

PMID:27989883

Abstract

Leber's hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) associated neurodegenerative disorder of retinal ganglion cells. In this study, whole mitochondrial genome sequencing of 75 LHON patients and 40 controls was performed to identify the mutation frequency and haplogroup background of South Indian population. Analysis of mtDNA revealed 559 different variants in LHON patients, including 7 pathogenic mutations, 30 private, and 22 other disease associated variants. A significantly higher (p=0.0008) overall variation load per individual was noted among LHON patients versus controls. We reported for the first time, the association of M haplogroup (p=0.028) with LHON in this cohort.

摘要

莱伯遗传性视神经病变（LHON）是一种与线粒体 DNA（mtDNA）相关的视网膜神经节细胞退行性疾病。在这项研究中，对 75 名 LHON 患者和 40 名对照者进行了全线粒体基因组测序，以确定南亚人群的突变频率和单倍群背景。mtDNA 分析显示，LHON 患者中有 559 种不同的变体，包括 7 种致病性突变、30 种个体性突变和 22 种其他与疾病相关的变体。与对照组相比，LHON 患者的个体总变异负荷明显更高（p=0.0008）。我们首次报告了在该队列中 M 单倍群（p=0.028）与 LHON 的关联。