Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation

Tarnopolsky, Mark A.; Maguire, John A.; Myint, Tomoko; Applegarth, Derek A.; Robinson, Brian H.

doi:10.1002/(sici)1097-4598(199801)21:1<25::aid-mus4>3.0.co;2-i

Cited by 37 publications

(13 citation statements)

References 14 publications

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“…Alternatively, pathological changes of the brain may not characterize the mutation type in MELAS. Previous reports revealed no significant differences between the patients with and without the mtDNA point mutation in clinical, radiological, physiological and biochemical studies and also in histopathological examination of muscle [4,[31][32][33][34]. The only difference is that the age of onset for patients with a 3271 point mutation is later than for those with a 3243 point mutation [32].…”

Section: Discussionmentioning

confidence: 82%

MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

Tanahashi¹,

Nakayama²,

Yoshida

et al. 2000

Acta Neuropathol

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We performed a neuropathological examination of the central nervous system from seven autopsied patients with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS). Five of the seven cases were confirmed to have the mitochondrial DNA (mtDNA) 3243 point mutation. In addition to the changes reported previously, diffuse atrophy of the cerebral and cerebellar cortices, diffuse gliosis of cerebral and cerebellar white matter, and cactus formation of Purkinje cells were observed. Electron microscopy revealed accumulation of mitochondria in the cactus formations. These lesions are common in MELAS with the mtDNA 3243 point mutation, but cannot be explained solely by mitochondrial angiopathy, and suggest that intrinsic mitochondrial malfunction contributes to neuronal damage in MELAS pathology. Moreover, the pathological changes observed in the cerebellum suggest that cerebellar function should be evaluated more carefully at the clinical level.

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Section: Discussionmentioning

confidence: 82%

MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

Tanahashi¹,

Nakayama²,

Yoshida

et al. 2000

Acta Neuropathol

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“…In the younger sister, diabetes was the only manifestation. Tarnopolsky et al (4) found no correlation between the clinical phenotype and the amount of mutant mtDNA in his patients with the T3271C mutation, but such correlation has been found in patients with MELAS and the A3243G mutation (30). In patients with A3243G mutation, the amount of mutant mtDNA in the muscle has a stronger correlation with the clinical phenotype than the amount of mutant mtDNA in the blood leucocytes.…”

Section: Discussionmentioning

confidence: 88%

“…Eighty percent of patients have an A to G transition at nucleotide position (np) 3243 in the mitochondrial tRNALeu gene corresponding to the UUR (R ϭ A or G) leucine codons (2,3). Another 7-15% of patients with MELAS have T to C transitions at np 3271 (T3271C) (4). The majority of the previously reported 20 patients with MELAS and the T3271C mutation have been Japanese (5)(6)(7)(8)(9)(10).…”

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confidence: 99%

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A Juvenile Case of MELAS with T3271C Mitochondrial DNA Mutation

et al. 2005

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“…Thus, other factors including other mtDNA mutations, nuclear background, and environmental factors modulate the phenotypic variability and penetrance of deafness associated with these mtDNA mutations. In addition, A3243G, T3171C in the tRNA Leu(UUR) gene and G8363A in the tRNA Lys gene are also known to be associated with maternally inherited syndromic hearing loss (4,32,33).…”

Section: Introductionmentioning

confidence: 99%

Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss

Kim¹

1998

Int J Mol Med

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Abstract. Mutations in mitochondrial DNA (mtDNA) are a major cause of hearing loss. In this study, we performed a systematic mutational screening of the 12S rRNA, tRNA Ser(UCN) , tRNA Lys and tRNA Leu(UUR) genes in 227 unrelated patients with nonsyndromic hearing impairment for the first time in a Korean population. We found two individuals with an A1555G mutation, which is a frequency (0.9%) lower than that of other East Asians. Furthermore, two novel variants (C895T and 961-CC insertion) in the 12S rRNA gene were identified in the affected individuals, but were absent in 217 controls, indicating that they may play a role in the pathogenesis of hearing loss. Notably, 961delT and T1005C mutations were identified at similar frequencies in both patients and control subjects. Our data suggest that these variants seem to be polymorphisms rather than causes of disease. On the other hand, we did not find any of the known deafness-associated mutations in these tRNA genes. These data suggest that the 12S rRNA gene may be a hot spot for mitochondrial mutations causing hearing loss in the Korean population.

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Clinical, physiological, and histological features in a kindred with the T3271C MELAS mutation

Cited by 37 publications

References 14 publications

MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

MELAS with the mitochondrial DNA 3243 point mutation: a neuropathological study

A Juvenile Case of MELAS with T3271C Mitochondrial DNA Mutation

Molecular analysis of mitochondrial gene mutations in Korean patients with nonsyndromic hearing loss

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