Maternally inherited mitochondrial DNA disease in consanguineous families

Alston, Charlotte L.; He, Langping; Morris, Andrew A. M.; Hughes, Imelda; Goede, Christian de; Turnbull, Doug M.; McFarland, Robert; Taylor, Robert W.

doi:10.1038/ejhg.2011.124

Cited by 18 publications

(17 citation statements)

References 23 publications

(21 reference statements)

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“…[7] The mitochondrial respiratory chain is located in the inner mitochondrial membrane and consists of four complexes (complexes I-IV) whilst complex V is directly involved in ATP synthesis. [8] The complexes of the mitochondrial respiratory chain are include of multiple subunits and all but complex II (which is entirely encoded by nuclear DNA) contain proteins encoded by nuclear and mitochondrial DNA (mtDNA). [9] The final respiratory chain complex (complex IV or cytochrome c oxidase [COX]) is the site at which over 90% of oxygen is consumed.…”

Section: Introductionmentioning

confidence: 99%

“…This complex is also involved in proton pumping, essential for ATP synthesis. [8] The mammalian COX is composed of 13 subunits of which the three largest are encoded by the mtDNA and form the catalytic core of the enzyme. The remaining ten, evolutionary younger, nuclearly encoded subunits are involved in assembly and regulation of the enzyme.…”

Section: Introductionmentioning

confidence: 99%

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Investigation of cytocrom c oxidase gene subunits expression on the Multiple sclerosis

2013

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INTRODUCTION:Multiple sclerosis (MS) is an autoimmune inflamatory disease, which affects the (Central Nervous System) and leads to the destruction of myelin and atrophy of the axons. Genetic factors, in addition to environmental ones, seem to play a role in MS. Numerous studies have reported mitochondrial defects including a reduction in cytochrome c oxidase (COX) complex function related to the reduction of mitochondrial genes expression in the cortex tissue of patients with MS have been reported.MATERIALS AND METHODS:This study aimed to assess COX5B and COX2 genes expression in MS patients and compare it with normal subjects. We determine expression levels of genes COX5B and COX2, and also gene reference ß-actine using real–time polymerase chain reaction (RT-PCR) method. Data were obtained and obtained and standardized with the gene reference and were analyzed using independent sample t-test with SPSS and Excel programs.RESULT AND DISCUSSION:The resultshowed COX5B gene expression reduced significant in MS patients compared to normal subjects (P < −0.05) whereas, there was no significant difference in the COX2 gene expression between normal subjects and patients. Thus, it can be claimed that down-regulation of mitochondrial electron transport chain genes supported the hypothesis that hypoxia-like tissue injury in MS may be due to mitochondrial genes, different expression impairment.

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Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Investigation of cytocrom c oxidase gene subunits expression on the Multiple sclerosis

2013

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“…Systematic screening of MT-ND genes in several cohorts of patients with isolated complex I deficiency have suggested a consistent relative frequency: 20% in Paris [15], 26% in Milan [16], 29% in Melbourne [14] and 15% in Nijmegen [17]. Although patients with related parents are more likely to have autosomal recessive inheritance, pathogenic MT-ND5 and MT-ND6 mutations have been reported in consanguineous pedigrees [18], and so comprehensive mtDNA sequence analysis should be performed in all patients with isolated complex I deficiency, regardless of family structure. Some recurrent mtDNA mutations have been reported in affected children, particularly associated with Leigh syndrome.…”

Section: Mitochondrial Dna Mutationsmentioning

confidence: 99%

189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands

Rahman¹,

Thorburn

2013

Neuromuscular Disorders

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“…2 The phenotypes associated with mutations in the MT-ND5 include Leigh syndrome and mitochondrial encephalopathy lactic acidosis and stroke-like episodes (MELAS). [1][2][3][4][5][6][7][8][9][10][11][12] The clinical, imaging, and genetic heterogeneity of pediatric mitochondrial disorders often pose diagnostic challenge. The genotype-phenotype correlations remains poorly defined in addition.…”

Section: Introductionmentioning

confidence: 99%

Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene

et al. 2015

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Mutations in the mitochondrial-encoded nicotinamide adenine dinucleotide dehydrogenase 5 gene (MT-ND5) has been implicated as an important genetic cause of childhood mitochondrial encephalomyopathies. This study reports the clinical and magnetic resonance imaging findings in two pediatric patients with mutations in the ND5 gene of mitochondrial DNA. The 8-month-old boy with m.13513 G>A mutation presented with infantile basal ganglia stroke syndrome secondary to mineralizing angiopathy. The 7-year-old girl with the m.13514A>G mutation had episodic regression, progressive ataxia, optic atrophy, and hyperactivity. Magnetic resonance imaging of the brain showed bilateral symmetrical signal intensity changes in the thalamus, tectal plate, and inferior olivary nucleus, which subsided on follow-up image. Both the patients had a stable course. Familiarity with the various phenotypic and magnetic resonance imaging findings and the clinical course in childhood mitochondrial encephalomyopathies may help the physician in targeted metabolic-genetic testing and prognostication.

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Maternally inherited mitochondrial DNA disease in consanguineous families

Cited by 18 publications

References 23 publications

Investigation of cytocrom c oxidase gene subunits expression on the Multiple sclerosis

Investigation of cytocrom c oxidase gene subunits expression on the Multiple sclerosis

189th ENMC International workshop Complex I deficiency: Diagnosis and treatment 20–22 April 2012, Naarden, The Netherlands

Clinical and Neuroimaging Features in Two Children with Mutations in the Mitochondrial ND5 Gene

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