Quantitative Evaluation of the Mitochondrial DNA Depletion Syndrome
نویسندگان
چکیده
منابع مشابه
Quantitative evaluation of the mitochondrial DNA depletion syndrome.
BACKGROUND The mitochondrial DNA (mtDNA) depletion syndromes (MDDSs) are autosomal recessive disorders characterized by a reduction in cellular mtDNA content. Mutations in at least 9 genes [POLG, polymerase (DNA directed), gamma; DGUOK, deoxyguanosine kinase; TK2, thymidine kinase, mitochondrial; TYMP, thymidine phosphorylase; MPV17, MpV17 mitochondrial inner membrane protein; SUCLA2, succinate...
متن کاملMolecular mechanisms in mitochondrial DNA depletion syndrome.
Depletion of mitochondrial DNA (mtDNA) appears to be an important cause of mitochondrial dysfunction in neonates and infants. We have identified another child in whom depletion of mtDNA was demonstrated in liver and serial skeletal muscle biopsies. A primary myoblast culture from the patient initially showed normal levels of mtDNA, but there was a progressive loss of mtDNA in later cell passage...
متن کاملMitochondrial DNA depletion syndrome causing liver failure.
BACKGROUND Mitochondrial DNA depletion syndromes are disorders of Mitochondrial DNA maintenance causing varied manifestations, including fulminant liver failure. CASE CHARACTERISTICS Two infants, presenting with severe fatal hepatopathy. OBSERVATION Raised serum lactate, positive family history (in first case), and absence of other causes of acute liver failure. OUTCOME Case 1 with homozy...
متن کاملNavajo neurohepatopathy: a mitochondrial DNA depletion syndrome?
Navajo neurohepatopathy (NNH) is an autosomal recessive disease of full-blooded Navajo children living in the Navajo Reservation of southwestern United States. Clinical features of NNH include peripheral and central nervous system involvement, acral mutilation, corneal scarring or ulceration, liver failure, and metabolic and immunologic derangement. The cause of NNH is unknown, but the clinical...
متن کاملHepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
BACKGROUND Autosomal recessive mutations in MPV17 (OMIM *137960) have been identified in the hepatocerebral form of mitochondrial DNA depletion syndrome (MDS). OBJECTIVE To describe the clinical, morphologic, and genetic findings in 3 children with MPV17-related MDS from 2 unrelated families. DESIGN Case report. SETTING Academic research. MAIN OUTCOME MEASURES We identified 3 novel path...
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ژورنال
عنوان ژورنال: Clinical Chemistry
سال: 2010
ISSN: 0009-9147,1530-8561
DOI: 10.1373/clinchem.2009.141549