ND1-ND6 are seven subunits of the NADH CoQ reductase or complex I of the respiratory chain. They are encoded by mitochondrial DNA and involved in the oxidative phosphorylation (OXPHOS) pathway. We observed a new genetic polymorphism in human mitochondrial DNA (mtDNA) caused by a variation of the base pair (bp) at position 14562, which is located in the gene for mitochondrial ND6 (Anderson et al.1981). The variant is a C-->NT transition which creates one new restriction site: Mbo I, leading to Valine substitution for Isoleucine. This polymorphism was observed in a patient, during a screening study for primary LHON mutations with multiple sclerosis (Kellar-Wood et al. 1994). The molecular analysis of other asymptomatic members of proband's family confirmed the same nucleotide variation. The primary LHON mutations at nucleotides 11778, 3460 and 14484 (Howell et al. 1995) were not present in this patient. We performed a mutational analysis in fifty normal subjects from the same geographic background, but this polymorphism was not detected. Thus, this novel nucleotide transition is a neutral polymorphism.
A new human mtDNA polymorphism: MTND6: 14562 (C-->T).
Cittadella R;Andreoli V;Manna I;
2001
Abstract
ND1-ND6 are seven subunits of the NADH CoQ reductase or complex I of the respiratory chain. They are encoded by mitochondrial DNA and involved in the oxidative phosphorylation (OXPHOS) pathway. We observed a new genetic polymorphism in human mitochondrial DNA (mtDNA) caused by a variation of the base pair (bp) at position 14562, which is located in the gene for mitochondrial ND6 (Anderson et al.1981). The variant is a C-->NT transition which creates one new restriction site: Mbo I, leading to Valine substitution for Isoleucine. This polymorphism was observed in a patient, during a screening study for primary LHON mutations with multiple sclerosis (Kellar-Wood et al. 1994). The molecular analysis of other asymptomatic members of proband's family confirmed the same nucleotide variation. The primary LHON mutations at nucleotides 11778, 3460 and 14484 (Howell et al. 1995) were not present in this patient. We performed a mutational analysis in fifty normal subjects from the same geographic background, but this polymorphism was not detected. Thus, this novel nucleotide transition is a neutral polymorphism.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
