Analysis of Wallace mutation in patients with Leber's hereditary optic neuropathy: familial study and tissue distribution

Leber's hereditary optic neuropathy (LHON) is a disorder considered to be due to a mutation in the mitochondrial DNA (mtDNA). The authors analyzed the mtDNA genotype of peripheral blood leukocytes from two family members with LHON, and further analyzed mtDNA in various tissues originating from the separate germ layers (skin, hair, leukocyte, muscle, arachnoid, CSF cells, and buccal mucosa) in two LHON patients. A G-to-A transition of mtDNA np 11778 (Wallace mutation) was detected by the elimination of a SfaN I site and the acquisition of a Maelll site in all individuals and tissues examined.