Mitochondrial DNA depletion syndromes: an update
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- 作者：Federica Deodato ; Simona Lucioli ; Cristiano Rizzo ; Maria Chiara Meschini ; Filippo M. Santorelli ; Enrico Bertini ; Carlo Dionisi-Vici ; Rosalba Carrozzo
- 关键词：DGUOK ; MMA ; MPV17 ; mtDNA depletion ; POLG1 ; SUCLA2 ; TK2
- 刊名：Paediatrics and Child Health
- 出版年：2009
- 出版时间：October 2009
- 年：2009
- 卷：19
- 期：Supplement 1
- 页码：S32-S37
- 全文大小：221 K
文摘
Mitochondrial DNA (mtDNA) depletion is a profound reduction of mtDNA copy number. The mtDNA depletion syndromes (MDS) are a heterogeneous group of severe mitochondrial disorders of infancy and childhood. There are three main clinical presentations of MDS: myopathic, hepatocerebral and encephalomyopathic. Almost 60 % of our MDS patients have been genetically characterised, and a strict association has been found between the encephalomyopathic MDS, SUCLA2 mutations and mild methylmalonic aciduria. The content of this manuscript refers to the Joint Conference (Ospedale Bambino Gesù/Mayo Eugenio Litta Children's Hospital ) held in May 9–11, 2007.