Mitochondrial hepatopathies: advances in genetics and pathogenesis. 2007

Way S Lee, and Ronald J Sokol
Department of Paediatrics, University of Malaya Medical Centre, Kuala Lumpur, Malaysia.

Hepatic involvement is a common feature in childhood mitochondrial hepatopathies, particularly in the neonatal period. Respiratory chain disorders may present as neonatal acute liver failure, hepatic steatohepatitis, cholestasis, or cirrhosis with chronic liver failure of insidious onset. In recent years, specific molecular defects (mutations in nuclear genes such as SCO1, BCS1L, POLG, DGUOK, and MPV17 and the deletion or rearrangement of mitochondrial DNA) have been identified, with the promise of genetic and prenatal diagnosis. The current treatment of mitochondrial hepatopathies is largely ineffective, and the prognosis is generally poor. The role of liver transplantation in patients with liver failure remains poorly defined because of the systemic nature of the disease, which does not respond to transplantation. Prospective, longitudinal, multicentered studies will be needed to address the gaps in our knowledge in these rare liver diseases.

UI MeSH Term Description Entries
D008107 Liver Diseases Pathological processes of the LIVER. Liver Dysfunction,Disease, Liver,Diseases, Liver,Dysfunction, Liver,Dysfunctions, Liver,Liver Disease,Liver Dysfunctions
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D050259 Genes, Mitochondrial Genes that are located on the MITOCHONDRIAL DNA. Mitochondrial inheritance is often referred to as maternal inheritance but should be differentiated from maternal inheritance that is transmitted chromosomally. Mitochondrial Inheritance,Mitochondrial Genes,Gene, Mitochondrial,Inheritance, Mitochondrial,Mitochondrial Gene
D028361 Mitochondrial Diseases Diseases caused by abnormal function of the MITOCHONDRIA. They may be caused by mutations, acquired or inherited, in mitochondrial DNA or in nuclear genes that code for mitochondrial components. They may also be the result of acquired mitochondria dysfunction due to adverse effects of drugs, infections, or other environmental causes. Electron Transport Chain Deficiencies, Mitochondrial,Mitochondria Dysfunction,Mitochondrial Defect,Mitochondrial Dysfunction,Oxidative Phosphorylation Deficiencies,Respiratory Chain Deficiencies, Mitochondrial,Mitochondrial Disorders,Mitochondrial Electron Transport Chain Deficiencies,Mitochondrial Respiratory Chain Deficiencies,Defect, Mitochondrial,Deficiency, Oxidative Phosphorylation,Disease, Mitochondrial,Disorder, Mitochondrial,Dysfunction, Mitochondria,Dysfunction, Mitochondrial,Mitochondria Dysfunctions,Mitochondrial Defects,Mitochondrial Disease,Mitochondrial Disorder,Mitochondrial Dysfunctions,Oxidative Phosphorylation Deficiency,Phosphorylation Deficiency, Oxidative

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