Syndromes associated with mitochondrial DNA depletion
نویسندگان
چکیده
منابع مشابه
Syndromes 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 کاملCoenzyme Q₁₀ deficiency in mitochondrial DNA depletion syndromes.
We evaluated coenzyme Q₁₀ (CoQ) levels in patients studied under suspicion of mitochondrial DNA depletion syndromes (MDS) (n=39). CoQ levels were quantified by HPLC, and the percentage of mtDNA depletion by quantitative real-time PCR. A high percentage of MDS patients presented with CoQ deficiency as compared to other mitochondrial patients (Mann-Whitney-U test: p=0.001). Our findings suggest t...
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To highlight differences between early-onset and adult mitochondrial depletion syndromes (MDS) concerning etiology and genetic background, pathogenesis, phenotype, clinical presentation and their outcome. MDSs most frequently occur in neonates, infants, or juveniles and more rarely in adolescents or adults. Mutated genes phenotypically presenting with adult-onset MDS include POLG1, TK2, TyMP, R...
متن کاملMitochondrial 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...
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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...
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ژورنال
عنوان ژورنال: Italian Journal of Pediatrics
سال: 2014
ISSN: 1824-7288
DOI: 10.1186/1824-7288-40-34