Abstract:
:Subacute necrotizing encephalopathy (SNE) or Leigh's disease is associated with various defects in oxidative phosphorylation (OXPHOS). However, the relationships between these OXPHOS defects and nuclear DNA or mitochondrial DNA (mtDNA) mutations is still unclear. We evaluated three SNE pedigrees (two singleton cases and a pedigree) biochemically for OXPHOS abnormalities and genetically for four mtDNA point mutations. There was a complex I defect in all three pedigrees that was associated with a complex III defect in two individuals. An mtDNA mutation in the ATPase, subunit 6 gene (np 8993) was present in one SNE pedigree. This mutation was maternally inherited, heteroplasmic, produced marked clinical and biochemical heterogeneity between pedigree members, and varied along the maternal lineage at levels ranging from 0% to > 95% of the total mtDNAs. These mtDNA mutations were not present in the other two pedigrees. These observations emphasize the importance of screening for OXPHOS defects and mtDNA mutations in SNE cases.
journal_name
Neurologyjournal_title
Neurologyauthors
Shoffner JM,Fernhoff PM,Krawiecki NS,Caplan DB,Holt PJ,Koontz DA,Takei Y,Newman NJ,Ortiz RG,Polak Mdoi
10.1212/wnl.42.11.2168subject
Has Abstract,Author List Incompletepub_date
1992-11-01 00:00:00pages
2168-74issue
11eissn
0028-3878issn
1526-632Xjournal_volume
42pub_type
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