TISSUE DISTRIBUTION OF THE ND4 11778 MUTATION IN HETEROPLASMIC LINEAGES WITH LEBER HEREDITARY OPTIC NEUROPATHY/

Leber hereditary optic neuropathy (LHON) is a maternally inherited eye disease most commonly caused by mitochondrial DNA (mtDNA) point mutat ion at position 11778, 3460, or 14484. Approximately 14% of families s how heteroplasmy for the pathogenic mutations but little is known abou t the mutational burden in different tissues of these heteroplasmic in dividuals. Consequently, estimating the risks of visual loss is diffic ult. This study presents quantitative mutation analyses of tissues rep resenting all embryonal layers in two families heteroplasmic for the 1 1778 mutation. These analyses show that a high amount of mutated mtDNA in leukocytes is correlated with a high proportion of mutated mtDNA i n other tissues. (C) 1997 Wiley Liss, Inc.