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dc.contributor.author Chinopoulos, Christos
dc.date.accessioned 2020-08-31T09:28:20Z
dc.date.available 2020-08-31T09:28:20Z
dc.date.issued 2020
dc.identifier.citation journalVolume=71;pagination=100834, pages: 8;journalTitle=MOLECULAR ASPECTS OF MEDICINE;journalAbbreviatedTitle=MOL ASPECTS MED;
dc.identifier.uri http://repo.lib.semmelweis.hu//handle/123456789/8315
dc.identifier.uri doi:10.1016/j.mam.2019.11.004
dc.description.abstract Neurometabolic disorders stem from errors in metabolic processes yielding a neurological phenotype. A subset of those disorders encompasses mitochondrial abnormalities partially due to mitochondrial DNA (mtDNA) depletion. mtDNA depletion can be attributed to inheritance, spontaneous mutations or acquired from drug-related toxicities. In the armamentarium of diagnostic procedures, mtDNA quantification is a standard for disease classification. However, alterations in mtDNA obtained from peripheral tissues such as skin fibroblasts and blood cells do not often reflect the severity of the affected organ, in this case, the brain. The purpose of this review is to highlight the pitfalls of quantitating mtDNA from peripheral -and not limited to-tissues for diagnosing patients suffering from a variety of mtDNA depletion syndromes exhibiting neurologic abnormalities. In lieu, a qualitative test of mitochondrial substrate-level phosphorylation -even from peripheral tissues-reflecting the ability of mitochondria to rely on glutaminolysis in the presence of respiratory chain defects is proposed as a novel diagnostic assessment of mitochondrial functionality.
dc.relation.ispartof urn:issn:0098-2997
dc.title Quantification of mitochondrial DNA from peripheral tissues
dc.type Journal Article
dc.date.updated 2020-06-11T12:30:55Z
dc.language.rfc3066 en
dc.rights.holder NULL
dc.identifier.mtmt 30942275
dc.identifier.pubmed 31740079
dc.contributor.department SE/AOK/I/Orvosi Biokémiai Intézet
dc.contributor.institution Semmelweis Egyetem


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