منابع مشابه
Mitochondrial DNA Depletion
Keywords Disease name Definition/diagnostic criteria Differential diagnosis Etiology Clinical description Frequency Diagnostic methods Genetic counselling Prenatal diagnosis Management Unresolved questions References Abstract The mtDNA depletion syndrome (MDS) is a clinically heterogeneous group of mitochondrial disorders characterized by a reduction of the mtDNA copy number in affected tissues...
متن کاملLipopolysaccharide-induced mitochondrial DNA depletion.
Hepatic energy depletion has been described in severe sepsis, and lipopolysaccharide (LPS) has been shown to cause mitochondrial DNA (mtDNA) damage. To clarify the mechanisms of LPS-induced mtDNA damage and mitochondrial alterations, we treated wild-type (WT) or transgenic manganese superoxide dismutase-overerexpressing (MnSOD(+++)) mice with a single dose of LPS (5 mg/kg). In WT mice, LPS incr...
متن کاملSyndromes associated with mitochondrial DNA depletion
Mitochondrial dysfunction accounts for a large group of inherited metabolic disorders most of which are due to a dysfunctional mitochondrial respiratory chain (MRC) and, consequently, deficient energy production. MRC function depends on the coordinated expression of both nuclear (nDNA) and mitochondrial (mtDNA) genomes. Thus, mitochondrial diseases can be caused by genetic defects in either the...
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...
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ژورنال
عنوان ژورنال: Pediatric Research
سال: 2003
ISSN: 0031-3998,1530-0447
DOI: 10.1203/01.pdr.0000072796.25097.a5