Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome) represents one of the most frequent mitochondrial disorders. The majority of MELAS cases are caused by m.3243A>G mutation in the mitochondrial MT-TL1 gene, which encodes the mitochondrial tRNALeu(UUR). Kidney involvement usually …
DetailsBackground and purpose: An increased number of pathogenic variants have been described in mitochondrial encephalomyopathy lactic acidosis and strokelike episodes (MELAS). Different imaging presentations have emerged in parallel with a growing recognition of clinical and outcome variability, which pose a diagnostic challenge to neurologists and …
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DetailsThe pathogenesis of MELAS syndrome is not fully understood. However, the associated manifestations are likely due to several interacting mechanisms. 1 The m.3243A>G mutation results in impaired mitochondrial translation leading to decreased synthesis of mitochondrial proteins including the subunits of electron transport chain …
DetailsObjectives: The present study explored the clinical characteristics and prognostic factors of epilepsy in patients with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).Methods: Thirty-four MELAS patients were included in the present study. They were diagnosed by clinical characteristics, genetic …
DetailsMELAS syndrome is a rare disorder that affects the brain, central nervous system, muscles, and other parts of the body. The disorder's name is Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like episodes (MELAS). It is characterized by nerve and muscle tissue degeneration, a buildup of lactic acid throughout the body, and ...
DetailsMELAS syndrome, which is a frequent maternally inherited mitochondrial disorder, is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, and myopathy. The m.3243A>G mutation in the MT-TL1 gene occurs in 80% of individuals with MELAS syndrome.
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DetailsMELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the …
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DetailsMitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), one of the most common maternally inherited mitochondrial diseases, is caused by mitochondrial DNA mutations that lead to mitochondrial dysfunction. Several treatment options exist, including supplementation with CoQ10, vitamins, and nutrients, but no …
DetailsMitochondrial myopathy encephalopathy lactic acidosis and stroke-like episodes (MELAS) is an important cause of stroke-mimicking diseases that predominantly affect patients before 40 years of age. MELAS results from gene mutations in either mitochondrial DNA (mtDNA) or nuclear DNA (nDNA) responsible for the wide spectrum of …
DetailsMitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is a rare mitochondrial disorder affecting children and young adults. Stroke-like episodes are often associated with acute cortical lesions in the posterior cerebral cortex and are classically described as asymmetric and transient. In this study we ...
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DetailsIntroduction. MELAS (mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes) syndrome is a maternally inherited mitochondrial disease that has a broad spectrum of manifestations, including stroke-like episodes, dementia, epilepsy, lactic acidosis, exercise intolerance, muscle weakness, migraine headaches, sensorineural …
DetailsThe following studies are indicated in patients with mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke (MELAS) syndrome: Serum lactic acid, serum pyruvic acid, cerebrospinal fluid (CSF) lactic acid, and CSF pyruvic acid. Lactic acidosis is an important feature of MELAS syndrome. See the image below for the pathophysiologic ...
DetailsBackground Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a mitochondrial cytopathy caused by mutations in mitochondrial DNA. Clinical manifestation is typically before the age of 40. Case presentation We present the case of a 63-year-old in whom the symptoms of MELAS were initially …
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