从一位携带线粒体 ND1 基因中 m.3635G>A 突变的同质性纯合子的 Leber 遗传性视神经病变患者中诱导产生多能干细胞系。
Generation of an induced pluripotent stem cell line from a patient with leber's hereditary optic neuropathy carrying a homoplasmic m.3635G > A mutation in the mitochondrial ND1 gene.
机构信息
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, No 218 Jixi Road, Hefei, Anhui 230022, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), No 81 Meishan Road, Hefei, Anhui 230032, China; Key Laboratory of Population Health Across Life Cycle (Anhui Medical University), Ministry of Education of the People's Republic of China, No 81 Meishan Road, Hefei, Anhui 230032, China.
Reproductive Medicine Center, Department of Obstetrics and Gynecology, The First Affiliated Hospital of Anhui Medical University, No 218 Jixi Road, Hefei, Anhui 230022, China; NHC Key Laboratory of Study on Abnormal Gametes and Reproductive Tract (Anhui Medical University), No 81 Meishan Road, Hefei, Anhui 230032, China.
出版信息
Stem Cell Res. 2022 Aug;63:102858. doi: 10.1016/j.scr.2022.102858. Epub 2022 Jul 12.
Leber's hereditary optic neuropathy (LHON) is a mitochondrial disease that usually leads to selective degeneration of retinal ganglion cells (RGCs) and optic atrophy in young adults. One of three common mitochondrial DNA (mtDNA) mutations (m.11778G > A, m.3460G > A, m.14484 T > C) account for 90% of LHON cases. All three affect the function of respiration chain complex I. However, m.3635G > A, affecting the structure and function of MT-ND1 gene, is also associated with LHON. Here, we successfully generated a human induced pluripotent stem cell (hiPSC) line from an LHON patient carrying a homoplasmic m.3635G > A mutation in the MT-ND1 gene.
Leber 遗传性视神经病变（LHON）是一种线粒体疾病，通常导致年轻成年人的视网膜神经节细胞（RGC）选择性退化和视神经萎缩。三种常见的线粒体 DNA（mtDNA）突变（m.11778G>A、m.3460G>A、m.14484T>C）之一占 LHON 病例的 90%。这三种突变都影响呼吸链复合物 I 的功能。然而，m.3635G>A，影响 MT-ND1 基因的结构和功能，也与 LHON 有关。在这里，我们成功地从携带 MT-ND1 基因中 m.3635G>A 纯合突变的 LHON 患者中产生了一个人诱导多能干细胞（hiPSC）系。
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