Atypical MELAS associated with mitochondrial tRNALys gene A8296G mutation

Sakuta, Ryoichi; Honzawa, Shiho; Murakami, Nobuyuki; Goto, Yu‐ichi; Nagai, Toshiro

doi:10.1016/s0887-8994(02)00456-3

Cited by 29 publications

(17 citation statements)

References 13 publications

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“…The pathogenicity of the A8296G mutation is still a matter of debate. Several reports described this mutation in patients with diabetes mellitus [25], MELAS (mitochondrial encephalomyopathy, lactic acidose and stroke-like episodes), MERRF [26] and cardiomyopathy [27]. Nevertheless, results of functionality tests in tumor cell lines with the A8296G mutation demonstrated no effects on mitochondrial protein biosynthesis which rather indicates a gene polymorphism than a pathogenic mutation [12].…”

Section: Respiratory Chain Enzymesmentioning

confidence: 99%

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

Wolf

Obermaier-Kusser

Jacobs

et al. 2012

Journal of the Neurological Sciences

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Section: Respiratory Chain Enzymesmentioning

confidence: 99%

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

Wolf

Obermaier-Kusser

Jacobs

et al. 2012

Journal of the Neurological Sciences

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“…After obtaining informed consent, genomic DNA was isolated from peripheral blood leukocytes using a Wizard genomic DNA purification kit (Promega, Madison, WI, USA), according to the manufacturer's protocol. The samples were analyzed for the presence of 15 point mutations associated with dystonia with bilateral striatal necrosis, LHON, or MELAS (A3243G (7), T3271C, T3308C (8), G3460A, A8296G (9), A8344G, T8356C, G8363A, T8851C (10), T8993G (11), T9176C (11), G11778A, G14459A, T14484C, and T14487C (12) by direct sequencing. In addition, the A3203G mutation, previously identified in a Japanese family, was analyzed (7).…”

Section: Case Reportmentioning

confidence: 99%

Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report

Kim

Park

2010

J Korean Med Sci

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We describe a Korean family presenting with pediatric-onset, progressive, generalized dystonia with bilateral striatal necrosis and the homoplasmic G14459A mutation in the mitochondrial ND6 gene. The G14459A mutation has been reported in families presenting with Leber hereditary optic neuropathy (LHON) alone, LHON plus dystonia, or pediatric-onset dystonia. The proband had shown dysarthria, progressive generalized dystonia, and spasticity at 5 yr. Brain MRI demonstrated bilateral striatal necrosis. Additional investigation of family members revealed the presence of homoplasmic G14459A mutation in asymptomatic individuals. The clinical manifestation of the homoplasmic G14459A mtDNA mutation within the same family showed asymptomatic or pediatric-onset dystonia, without optic neuropathy. This study reemphasizes that the G14459A mutation is a candidate mutation for maternally inherited dystonia, regardless of optic neuropathy, and supports the hypothesis that nuclear genes may play a role in modifying the clinical expression of mitochondrial disease.

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“…The CT may show diffuse atrophy or focal atrophy of the supratentorial cortex 22 or the cerebellum 58,59 , focal or diffuse demyelination, uni-or bilateral calcifications of the basal ganglia, frequently observed in MELAS 54,59 , dentate nuclei, or the cerebellum 59 , vasogenic edema 60,61 , bilateral striatal necrosis 59,62 , malformations 63 such as polymicrogyria 52 or tuberous sclerosis 53 , or macro-or microhemorrhages.…”

Section: Computed Tomography (Ct)mentioning

confidence: 99%

Central Nervous System Imaging in Mitochondrial Disorders

Finsterer

2009

Can. j. neurol. sci.

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Imaging of central-nervous-system (CNS) abnormalities is important in patients with mitochondrial disorders (MCDs) since the CNS is the organ second most frequently affected in MCDs and some of them are potentially treatable. Clinically relevant imaging techniques for visualization of CNS abnormalities in MCDs are computed tomography, magnetic resonance imaging, and MR-spectroscopy. The CNS abnormalities in MCDs visualized by imaging techniques include stroke-like lesions with cytotoxic or vasogenic edema, laminar cortical necrosis, basal ganglia necrosis, focal or diffuse white matter lesions, focal or diffuse atrophy, intra-cerebral calcifications, cysts, lacunas, hypometabolisation, lactacidosis, hemorrhages, cerebral hypo- or hyperperfusion, intra-cerebral artery stenoses, or moyamoya syndrome. The CNS lesions may proceed with or without clinical manifestations, why neuroimaging should be routinely carried out in all MCDs to assess the degree of CNS involvement. Some of these lesions may remain unchanged for years, some may show contiguous spread and progression, but some may even disappear, spontaneously or in response to medication. Dynamics of Stroke-like lesions may be positively influenced by L-arginine, dichloracetate, steroids, edavarone, or antiepileptics. Symptomatic treatment of CNS abnormalities in MCD patients may positively influence their outcome.

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Atypical MELAS associated with mitochondrial tRNALys gene A8296G mutation

Cited by 29 publications

References 13 publications

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

A new mitochondrial point mutation in the transfer RNALys gene associated with progressive external ophthalmoplegia with impaired respiratory regulation

Pediatric-Onset Dystonia Associated with Bilateral Striatal Necrosis and G14459A Mutation in a Korean Family: A Case Report

Central Nervous System Imaging in Mitochondrial Disorders

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