[HTML][HTML] Threshold effect and tissue specificity: implication for mitochondrial cytopathies

R Rossignol, M Malgat, JP Mazat, T Letellier - Journal of Biological …, 1999 - ASBMB
Mitochondrial cytopathies present a tissue specificity characterized by the fact that even if a
mitochondrial DNA mutation is present in all tissues, only some will be affected and induce a
pathology. Several mechanisms have been proposed to explain this phenomenon such as
the appearance of a sporadic mutation in a given stem cell during embryogenesis or mitotic
segregation, giving different degrees of heteroplasmy in tissues. However, these
mechanisms cannot be the only ones involved in tissue specificity. In this paper, we propose …