Mitochondrial DNA-related Disorders. Issue 1 (13th June 2007)

• Record Type: Journal Article
• Authors: Mancuso, Michelangelo; Filosto, Massimiliano; Choub, Anna; Tentorio, Marta; Broglio, Laura; Padovani, Alessandro; Siciliano, Gabriele
• Is Part Of: Bioscience reports. Volume 27:Issue 1/3(2007)
• Page Start: 31
• Page End: 37
• Publication Date: 2007-06-13
• Subjects: Mitochondrial disease -- Mitochondrial DNA -- MELAS -- MERRF -- PEO -- Leber; Molecular biology -- Periodicals; Cytology -- Periodicals; 572.8
• DOI: 10.1007/s10540-007-9035-2
• Languages: English
• ISSNs: 0144-8463

Abstract

Abstract : Mitochondrial diseases are a group of disorders due to a mitochondrial respiratory chain deficiency. They may depend on mitochondrial genome ( mtDNA -related disorders) as well as on a nuclear genome defect ( nDNA -related disorders). mtDNA -related disorders encompass an increasing number of clinical pictures associated with more than 250 different provisional or confirmed pathogenic changes in mtDNA . Although some clinical syndromes are nosologically defined, most of the cases present with polymorphous phenotypes ranging from pure myopathy to multi-system involvement. Complexity of mitochondrial genetics is in part responsible for the extreme clinical intra- and inter-familial heterogeneity of this group of diseases. In this review, we briefly report an updated classification and overview the main clinical pictures of this class of diseases.