期刊
STEM CELL RESEARCH
卷 63, 期 -, 页码 -出版社
ELSEVIER
DOI: 10.1016/j.scr.2022.102858
关键词
-
资金
- National Natural Science Foundation of China [U20A20350, 81971455, 81871216, 82101802]
- National Key Research and Development Program of China [2021YFC2700901]
LHON is a mitochondrial disease that causes degeneration of retinal ganglion cells and optic atrophy in young adults. The majority of LHON cases are caused by three common mitochondrial DNA mutations, while another mutation affects the structure and function of the MT-ND1 gene. Researchers have generated a hiPSC line from an LHON patient with the MT-ND1 mutation.
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.
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