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Clinical heterogeneity in two pedigrees with the 3243 bp tRNA Leu(UUR) mutation of mitochondrial DNA
Author(s) -
Campos Y.,
Bautista J.,
GutiérrezRivas E.,
Chinchón D.,
Cabello A.,
Segura D.,
Arenas J.
Publication year - 1995
Publication title -
acta neurologica scandinavica
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.967
H-Index - 95
eISSN - 1600-0404
pISSN - 0001-6314
DOI - 10.1111/j.1600-0404.1995.tb05845.x
Subject(s) - proband , mitochondrial dna , melas syndrome , pedigree chart , genetics , mitochondrial myopathy , lactic acidosis , biology , point mutation , mutation , heteroplasmy , endocrinology , gene
We studied two pedigrees with a mutation at the nucleotide 3243 of mitochondrial DNA (mtDNA). The proband from the first pedigree had clinically defined MELAS plus maternally transmitted insulin‐dependent diabetes mellitus (IDDM). The propositus of the other pedigree had exercise intolerance, lactic acidosis and ragged‐red fibers (RRF). In the first pedigree, both the mother and the sister's proband harbored the point mutation in their muscle. The mother had 40% of mutant mitochondrial genomes and the sister 70%. In the second pedigree, the mutation was present in both muscle and blood from the proband as well as in blood from all other members studied. Proportion of mutant mtDNA was 90% in muscle and ranged from 40% to 90% in blood.