Article
A wide range of 3243A>G/tRNALeu(UUR) (MELAS) mutation loads may segregate in offspring through the female germline bottleneck.
PloS one - 1 Jan 2014
Pallotti Francesco, Binelli Giorgio, Fabbri Raffaella, Valentino Maria L, Vicenti Rossella, Macciocca Maria, Cevoli Sabina, Baruzzi Agostino, DiMauro Salvatore, Carelli Valerio
Abstract excerpt
Segregation of mutant mtDNA in human tissues and through the germline is debated, with no consensus about the nature and size of the bottleneck hypothesized to explain rapid generational shifts in mutant loads. We investigated two maternal lineages with an apparently different inheritance pattern of the same pathogenic mtDNA 3243A>G/tRNALeu(UUR) (MELAS) mutation. We collected blood cells, muscle biopsies, urinary...
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