MELAS: Clinical features, biochemistry, and molecular genetics

Ciafaloni, Emma; Ricci, Enzo; Shanske, Sara; Moraes, Carlos T.; Silvestri, Gabriella; Hirano, Michio; Simonetti, Simonetta; Angelini, C.; Donati, Maria Alice; García, Carolina Carrizo; Martinuzzi, Andrea; Mosewich, Russell K.; Servidei, Serenella; Zammarchi, Enrico; Bonilla, Eduardo; DeVivo, Darryl C.; Rowland, Lewis P.; Schon, Eric A.; DiMauro, Salvatore

doi:10.1002/ana.410310408

Cited by 474 publications

(283 citation statements)

References 15 publications

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“…18,19 In contrast, when studying the A3243G mutation in a 24 week old foetus, there was almost no differences in the heteroplasmy level between different tissues. 20 These observations indicate that the level of heteroplasmy increases in post mitotic tissue and/ or decreases in mitotic tissue.…”

Section: Discussionmentioning

confidence: 85%

The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness

et al. 2001

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We have in a longitudinal study determined the proportion of the mitochondrial A3243G mutation in DNA obtained from cervical cell samples collected from three individuals affected with mitochondrial diabetes and hearing loss during a period of up to 18 years. Using the minisequencing method we were able to sensitively determine the proportion between mutant and normal mitochondrial DNA. Our results demonstrate a constant decrease in the levels of the pathogenic mutation in mitotic tissues of affected individuals with time. European Journal of Human Genetics (2001) 9, 917 ± 921.

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Section: Discussionmentioning

confidence: 85%

The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness

et al. 2001

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“…Several types of respiratory complex defects caused by m.3243 A>G have been previously reported. Ciafaloni et al reported that the mutation resulted in a decrease in the activities of complexes I + III, II + III, and IV in the muscles (Ciafaloni et al, 1992). In a previous study, we observed that deficiencies in complex I or IV were common; however, deficiencies in complex III were not observed in patients displaying the m.3243 A>G mutation (Ma et al, 2013).…”

Section: Discussionmentioning

confidence: 54%

Respiratory chain complex III deficiency in patients with tRNA-leu mutation

Jiang

Wang

2015

Genet. Mol. Res.

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ABSTRACT. The aim of this study was to investigate the clinical and genetic profiles of mitochondrial disease resulting from deficiencies in the respiratory chain complex III. Three patients, aged between 8 months and 12 years, were recruited for this study. The activities of mitochondrial respiratory chain complexes in the peripheral leucocytes were spectrophotometrically measured. The entire mitochondrial DNA (mtDNA) sequence was analyzed. Samples obtained from the three patients and their families were subjected to restriction fragment length polymorphism and gene sequencing analyses. mtDNA copy numbers of all patients and their mothers were analyzed. The patients displayed nervous system impairment, including motor and mental developmental delay, hypotonia, and motor regression. Two patients also suffered from Leigh syndrome. Assay of the mitochondrial respiratory chain enzymes revealed an isolated complex III deficiency in the three patients. The m.3243 A>G mutation was detected in all patients and their mothers. The mutation loads were 48.3, 57.2, and 45.5% in the patients, and 20.5, 16.4, and 23.6% in their respective mothers. The leukocyte mtDNA copy numbers of the patients and their mothers were within the control range. The clinical manifestation and genetics were observed to be very heterogeneous. Patient carrying an m.3243 A>G mutation may biochemically display a deficiency in the mitochondrial respiratory chain complex III.

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“…It should be noted that the MELAS mtDNAmutation may cause clinical symptoms other than MELAS (14,15). In fact, the patient had no stroke-like episodes.…”

Section: Discussionmentioning

confidence: 82%

A MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes) mtDNA Mutation that Induces Subacute Dementia which Mimicks Creutzfeldt-Jakob Disease.

et al. 1994

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A 50-year-old womanwith subacute dementia and brain atrophy on CT showed periodic synchronous discharge (PSD) on electroencephalogram (EEG) and myoclonus. She was initially suspected of suffering from Creutzfeldt-Jakob disease (CJD), but dramatically recovered over 5 months. Based on further investigations, the final diagnosis was mitochondrial encephalomyopathy with an A-to-G substitution at nucleotide position 3243 in mitochondrial DNA(mtDNA), commonly seen in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS). This case suggests that patients suspected of suffering from CJD should be evaluated for mitochondrial encephalomyopathy. (Internal Medicine 33: 543-546, 1994)

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MELAS: Clinical features, biochemistry, and molecular genetics

Cited by 474 publications

References 15 publications

The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness

The level of the mitochondrial mutation A3243G decreases upon ageing in epithelial cells from individuals with diabetes and deafness

Respiratory chain complex III deficiency in patients with tRNA-leu mutation

A MELAS (Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes) mtDNA Mutation that Induces Subacute Dementia which Mimicks Creutzfeldt-Jakob Disease.

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