Demonstration of a new pathogenic mutation in human complex I deficiency: a 5-bp duplication in the nuclear gene encoding the 18-kD (AQDQ) subunit

Article Abstract:

A pathological mutation has been reported for the first time in a nuclear complex I gene of the mitochondrial respiratory chain. Twenty complex I-deficient patients with multisystem disorders have been studied. For the human nuclear gene that encodes with 18-kD (AQDQ) subnuit of the mitochondrial respiratory chain complex I, an identified mutation, cDNA cloning, chromosomal localization have been reported. The gene of the cDNA has been mapped to chromosome 5. A homozygous 5-bp duplication was found in a complex I-deficient child with parents heterozygous for the mutation. The duplication was in the 18-kD cDNA and destroys a consensus phosphorylation site. The patient had normal muscle morphology and a surprisingly nonspecific fatal progressive phenotype and no increased lactate concentrations in body fluids. In 19 patients who were complex I-deficient, mutations were not found in the 18-kD gene.

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The first nuclear-encoded complex I mutation in a patient with Leigh syndrome

Article Abstract:

The first molecular genetic link of a nuclear-encoded subunit of nicotinamide adenine dinucleotide (NADH):ubiquinone oxidoreductase, complex I of five multiprotein complexes that make up the oxidative phosphorylation system in mammals, for a patient with Leigh syndrome (subacute necrotizing encephalomyelopathy) is discussed. Cycle sequencing of amplified NDUFS8 (TYKY), a subunit of complex I, cDNA was undertaken with 20 patients with isolated enzymatic complex I deficiency, and in one patient with Leigh syndrome two new compound heterozygous transition mutations were seen.

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Getting to the nucleus of mitochrondrial disorders: identification of respiratory chain-enzyme genes causing Leigh syndrome

Article Abstract:

Mitochondrial disorders and the identification of respiratory chain-enzyme genes responsible for Leigh syndrome (subacute necrotizing encephalomyelopathy) or Leigh-like syndrome, which might be called mitochondrial encephalopathy, are discussed. Mutations in mtDNA that bring on Leigh syndrome are known and work on pathways that lead to successful import/assembly/function of respiratory chain enzymes can be undertaken using some proposed elegant ways of identifying nuclear-encoded mitochondrial genes.

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