Molecular mechanisms of non-mendelian inheritance in genetic diseases

ABSTRACT

Recently identified molecular mechanisms [mitochondrial DNA mutations, genomic imprinting, uniparental disomy, unstable trinucleotide repeats] responsible for the non-mendelian patterns of some genetic diseases are reviewed. Among the diseases considered are LHON [Leber's hereditary optic neuropathy], MERRF [myoclonic epilepsy with ragged-red fibers], MELAS [mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes], Prader-Willi syndrome, Angelman syndrome, fragile-X syndrome, myotonic dystrophy, as well as others