MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy
نویسندگان
چکیده
منابع مشابه
Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy.
Whole-exome sequencing and autozygosity mapping studies, independently performed in subjects with defective combined mitochondrial OXPHOS-enzyme deficiencies, identified a total of nine disease-segregating FBXL4 mutations in seven unrelated mitochondrial disease families, composed of six singletons and three siblings. All subjects manifested early-onset lactic acidemia, hypotonia, and developme...
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We describe the case of a woman in whom combination of a mitochondrial (MT-CYB) and a nuclear (SDHB) mutation was associated with clinical and metabolic features suggestive of a mitochondrial disorder. The mutations impaired overall energy metabolism in the patient's muscle and fibroblasts and increased cellular susceptibility to oxidative stress. To clarify the contribution of each mutation to...
متن کاملmitochondrial neurogastrointestinal encephalomyopathy (mngie)
mitochondrial neurogastrointestinal encephalo-myopathy (mngie) is a rare autosomal recessive disease caused by thymidine phosphorylase (tp) gene mutation. here we report a patient with mngie in whom sensorimotor polyneuropathy was the first presenting symptom and had a fluctuating course. this 26-year-old female patient developed acute-onset demyelinating polyneuropathy from the age of 6 with t...
متن کاملBiochemical studies in mitochondrial encephalomyopathy.
The alpha-keto acid dehydrogenase complex and its component enzymes, lactate dehydrogenase, pyruvate carboxylase, cytochrome c oxidase, succinate-cytochrome c reductase, NADH-cytochrome c reductase, and the concentration of cytochromes and enzymes of beta-oxidation in muscle from a patient with mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes were studied and no ...
متن کاملNon-epileptic myoclonus and mitochondrial encephalomyopathy.
Two brothers presented to us with a progressive myoclonic syndrome with slight cerebellar symptoms. Neurological examination disclosed moderate cerebellar signs and pale optic discs; asymmetric, asynchronous and arrhythmic myoclonus, an arrthesthesic deficit and no muscular weakness. EEG background activity was moderately slow with no irritative discharges. CT was normal in both cases. Intermit...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2019
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddz093