Abstract Objective: Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare syndrome resulting from mutations in mitochondrial DNA. A neuropsychological profile of MELAS typically shows deficits executive function, attention, language, memory, visuospatial, motor functioning. To our knowledge, has been studied single cases only. Here we examine the juvenile ...

Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome is a progressive neurodegenerative disorder caused by mutations in the genes in the mitochondrial DNA. In most cases, the signs and symptoms of this disorder appear in childhood following a period of normal development. A 2 year old female child with global developmental delay presented with trauma to the paedi...

OBJECTIVE To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a pedigree harbouring the heteroplasmic A to G transition at nucleotide 3243 of the mitochondrial tRNALeu(...

With interestwe read the article by Zanolini et al. about a 21 yomale with exercise-intolerance since age 7 y, recurrent vomiting since age 17 y, muscle wasting, decreased tendon reflexes, high-arched palate and mal-occlusion detected at age 20 y, exercise-induced supraventricular tachycardia, and lactic acidosis due to a ND2 mutation [1]. The patient profited from coenzyme-Q [1]. We have the f...

Mitochondrial DNA (mtDNA) content is thought to remain stable over the preimplantation period of human embryogenesis that is, therefore, suggested to be entirely dependent on ooplasm mtDNA capital. We have explored the impact of two disease-causing mutations [m.3243A>G myopathy, encephalopathy, lactic acidosis and stroke-like syndrome (MELAS) and m.8344A>G myoclonic epilepsy associated with rag...

AIM We report molecular imaging combined with gene diagnosis in a family with 7 members who carried an A3243G mutation in mitochondrial tRNA and p.Thr 137 Met in cationic trypsinogen (PRSS1) gene presented with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), diabetes, and recurrent pancreatitis. MATERIAL AND METHODS DNA sequencing was used to detect and val...

Mitochondrial DNA (mtDNA) mutations manifest with vast clinical heterogeneity. The molecular basis of this variability is mostly unknown because the lack of model systems has hampered mechanistic studies. We generated induced pluripotent stem cells from patients carrying the most common human disease mutation in mtDNA, m.3243A>G, underlying mitochondrial encephalomyopathy, lactic acidosis, and ...

Received 31 October 1995 and in final revised form 19 February 1996 Accepted 23 February 1996 Abstract Objective-To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. Methods-Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a ped...

OBJECTIVE To determine whether there are common symptoms within different phenotypes of the mitochondrial DNA A3243G mutation. DESIGN A series of 52 adults with mitochondrial encephalomyopathies and their symptomatic relatives were screened for the A3243G mutation using restriction enzyme analysis. In addition to clinical examination, patients with the mutation underwent audiometry. RESULTS...