A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy

Povalko, Nataliya; Zakharova, Ekaterina; Руденская, Г. Е.; Akita, Yukihiro; Hirata, Koji; Matsuishi, Toyojiro; Koga, Yasutoshi

doi:10.1016/j.mito.2005.03.003

Cited by 22 publications

(12 citation statements)

References 15 publications

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“…This last patient also presented ischemic cardiomyopathy, nonproliferative diabetic retinopathy and cataract. The C8393T mutation in the ATPase8 gene was previously described in subjects with LHON syndrome or neurosensorial deafness (24,25). This mutation was observed in two "classical" type 2 diabetic patients and in one patient of the MIDD group.…”

Section: Discussionmentioning

confidence: 79%

Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness

Crispim

Estivalet

Roisenberg

et al. 2008

Arq Bras Endocrinol Metab

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The aim of the present study is to investigate the prevalence of ten described mitochondrial DNA (mtDNA) mutations in patients with type 2 diabetes, and search for new mutations in four mtDNA genes in a subgroup of patients with characteristics of maternally inherited diabetes and deafness (MIDD). These mutations were investigated in 407 type 2 diabetic patients without characteristics of mitochondrial diabetes ("classical" type 2 diabetes group) and in 38 type 2 diabetic patients with characteristics suggestive of MIDD. Through sequencing of four mtDNA genes in MIDD patients, we selected fi ve others potentially pathogenic mutations that were also screened in the remaining patients. Overall, the frequency of the fi fteen analyzed mutations was 36.84% in the MIDD group and 2.45% in the "classical" type 2 diabetes group (p < 0.001). In conclusion, our study reinforces the importance of mtDNA mutations in the pathogenesis of MIDD.

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Section: Discussionmentioning

confidence: 79%

Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness

Crispim

Estivalet

Roisenberg

et al. 2008

Arq Bras Endocrinol Metab

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“…The p.N374D, CytB substitution occurs near Lysine (311, 375, and 378) and Serine (310, 314, and 370) residues and may be potentially involved in polar interactions with these neighboring sites. The p.D171N, CytB substitution which is located on the outer core of protein is a risk factor for LHON [103-110]. Complex III is the ETC enzyme responsible for oxidizing ubiquionol and transferring electrons to cytochrome c through the cytochrome b mediated Q cycle.…”

Section: 0 Discussionmentioning

confidence: 99%

Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly

Tranah

Lam

Katzman

et al. 2012

Biochimica et Biophysica Acta (BBA) - Bioenergetics

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The decline in activity energy expenditure underlies a range of age-associated pathological conditions, neuromuscular and neurological impairments, disability, and mortality. The majority (90%) of the energy needs of the human body are met by mitochondrial oxidative phosphorylation (OXPHOS). OXPHOS is dependent on the coordinated expression and interaction of genes encoded in the nuclear and mitochondrial genomes. We examined the role of mitochondrial genomic variation in free-living activity energy expenditure (AEE) and physical activity levels (PAL) by sequencing the entire (~16.5 kilobases) mtDNA from 138 Health, Aging, and Body Composition Study participants. Among the common mtDNA variants, the hypervariable region 2 m.185G>A variant was significantly associated with AEE (p=0.001) and PAL (p=0.0005) after adjustment for multiple comparisons. Several unique nonsynonymous variants were identified in the extremes of AEE with some occurring at highly conserved sites predicted to affect protein structure and function. Of interest is the p.T194M, CytB substitution in the lower extreme of AEE occurring at a residue in the Qi site of complex III. Among participants with low activity levels, the burden of singleton variants was 30% higher across the entire mtDNA and OXPHOS complex I when compared to those having moderate to high activity levels. A significant pooled variant association across the hypervariable 2 region was observed for AEE and PAL. These results suggest that mtDNA variation is associated with free-living AEE in older persons and may generate new hypotheses by which specific mtDNA complexes, genes, and variants may contribute to the maintenance of activity levels in late life.

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“…[19]) N o ? [3] 3407 G→A ND1 [4] No M5a [3] 11365 T→C ND4 [20]; [21]; [4]; [22] Yes (D5;N) A2b; D5a2; M5a; N22 [3] 12477 T→C ND5 [23]; [24]; [9]; [20]; [14] (3); [25]; [26]; [7] (6); [4]; [27]; [28]; [29]; [30] Yes (L1; M5; M ⁎ ; M11) J ⁎ ; J2a1; K1a2; L1c1a (2); L1c2a (2); M5a (9); M11a; M33; Q1; X2 [5] 2755 A→G 16S rRNA [9]; [20] (2); [14] (4); [8] (3); [10]; [7]; [38] Yes (L1; M; R8) L0a; L1c1a (7); M ⁎ ; R8 (3); ? [5] 5510 A→G ND2 [8] (2) Yes (R8) R8 (2) [5] 5911 C→T COI [31]; [9]; [14]; [32]; [8] (2); [10] (4); [39] Yes (L0; R8) H3b; L0a (5); L0a1; L0a1a; R8 (2); U [5] 10283 A→G ND3 [9]; [14]; [33] (3); [34] No H ⁎ ; Q2 (3); U5b (2) [5] 10316 A→G ND3 [7] Yes (M2) M4'30 …”

Section: Discussionmentioning

confidence: 99%

The search of ‘novel’ mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor

Bandelt

Yao

Salas

2008

International Journal of Cardiology

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A new sequence variant in mitochondrial DNA associated with high penetrance of Russian Leber hereditary optic neuropathy

Cited by 22 publications

References 15 publications

Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness

Prevalence of 15 mitochondrial DNA mutations among type 2 diabetic patients with or without clinical characteristics of maternally inherited diabetes and deafness

Mitochondrial DNA sequence variation is associated with free-living activity energy expenditure in the elderly

The search of ‘novel’ mtDNA mutations in hypertrophic cardiomyopathy: MITOMAPping as a risk factor

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