Non-random mtDNA segregation patterns indicate a metastable heteroplasmic segregation unit in m.3243A>G cybrid cells.
Many pathogenic mitochondrial DNA mutations are heteroplasmic, with a mixture of mutated and wild-type mtDNA present within individual cells. The severity and extent of the clinical phenotype is largely due to the distribution of mutated molecules between cells in different tissues, but mechanisms u...
Main Authors: | Anton K Raap, Roshan S Jahangir Tafrechi, Frans M van de Rijke, Angela Pyle, Carolina Wählby, Karoly Szuhai, Raimond B G Ravelli, René F M de Coo, Harsha K Rajasimha, Mats Nilsson, Patrick F Chinnery, David C Samuels, George M C Janssen |
---|---|
Format: | Article |
Language: | English |
Published: |
Public Library of Science (PLoS)
2012-01-01
|
Series: | PLoS ONE |
Online Access: | http://europepmc.org/articles/PMC3525564?pdf=render |
Similar Items
-
Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues.
by: Matthews, P, et al.
Published: (1994) -
Nitric Oxide Synthesis Is Increased in Cybrid Cells with m.3243A>G Mutation
by: Juliana Gamba, et al.
Published: (2012-12-01) -
Heteroplasmic mitochondrial DNA variants in cardiovascular diseases.
by: Claudia Calabrese, et al.
Published: (2022-04-01) -
Senibina cybrid /
by: 462961 Kamarul Bahari Mohd. Ali
Published: (2004) -
Generation of a human induced pluripotent stem cell line harboring heteroplasmic m.3243A > G mutation in MT-TL1 gene
by: Min Song, et al.
Published: (2024-06-01)