Article ; Online: Generation of iPSCs from identical twin, one affected by LHON and one unaffected, both carrying a combination of two mitochondrial variants: m.14484 T>C and m.10680G>A.
2024 Volume 77, Page(s) 103406
Abstract: ... with key mutations being m.3460G > A, m.11778G > A, and m.14484 T > C. Fibroblasts from identical twins ... sharing m.14484 T > C and m.10680G > A variants each with 70 % heteroplasmy, were used to generate iPSC ... unravelling the role of m.10680G > A, which is still debated. ...
Abstract | Leber hereditary optic neuropathy (LHON) is one of the most common mitochondrial illness, causing retinal ganglion cell degeneration and central vision loss. It stems from point mutations in mitochondrial DNA (mtDNA), with key mutations being m.3460G > A, m.11778G > A, and m.14484 T > C. Fibroblasts from identical twins, sharing m.14484 T > C and m.10680G > A variants each with 70 % heteroplasmy, were used to generate iPSC lines. Remarkably, one twin, a LHON patient, displayed symptoms, while the other, a carrier, remained asymptomatic. These iPSCs offer a valuable tool for studying factors influencing disease penetrance and unravelling the role of m.10680G > A, which is still debated. |
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Language | English |
Publishing date | 2024-03-24 |
Publishing country | England |
Document type | Journal Article |
ZDB-ID | 2393143-7 |
ISSN | 1876-7753 ; 1873-5061 |
ISSN (online) | 1876-7753 |
ISSN | 1873-5061 |
DOI | 10.1016/j.scr.2024.103406 |
Database | MEDical Literature Analysis and Retrieval System OnLINE |
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