Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing. Taken as a whole they are among the most frequent genetic diseases in humans at any age. The respiratory chain is the only metabolic pathway under double genome control and molecular genetics of these disorders is complicated by the existence of strict interactions between mitochondrial DNA and nuclear DNA. In childhood and infancy, clinical presentation differs from mitochondrial disorders with adult onset. The phenotypes are much more severe, often involving brain, frequently presenting as multisystemic disorders and seldom as isolated myopathy. Mutations in nDNA are more frequent than in adulthood

Ardissone, A., Lamantea, E., Invernizzi, F., Zeviani, M., Genitrini, S., Moroni, I., et al. (2014). Mitochondrial diseases in childhood. CURRENT MOLECULAR MEDICINE, 14(8), 1069-1078 [10.2174/1566524014666141010155317].

Mitochondrial diseases in childhood

Ardissone, A.;Uziel, G.
2014

Abstract

Mitochondrial disorders are a group of heterogeneous diseases associated with abnormalities of the oxidative phosphorylation (OXPHOS), the most important source of energy for the cell. The number of mitochondrial syndromes and of identified causative genes is constantly increasing. Taken as a whole they are among the most frequent genetic diseases in humans at any age. The respiratory chain is the only metabolic pathway under double genome control and molecular genetics of these disorders is complicated by the existence of strict interactions between mitochondrial DNA and nuclear DNA. In childhood and infancy, clinical presentation differs from mitochondrial disorders with adult onset. The phenotypes are much more severe, often involving brain, frequently presenting as multisystemic disorders and seldom as isolated myopathy. Mutations in nDNA are more frequent than in adulthood
Articolo in rivista - Articolo scientifico
Encephalomyocardiopathy; Leigh disease; Leukoencephalopathy; Mitochondrial depletions syndromes; Mitochondrial disorder in childhood; Respiratory chain defects; Biochemistry; Molecular Medicine; Molecular Biology
English
1069
1078
10
Ardissone, A., Lamantea, E., Invernizzi, F., Zeviani, M., Genitrini, S., Moroni, I., et al. (2014). Mitochondrial diseases in childhood. CURRENT MOLECULAR MEDICINE, 14(8), 1069-1078 [10.2174/1566524014666141010155317].
File in questo prodotto:
File Dimensione Formato  
Curr Molec med (2014).pdf

Solo gestori archivio

Tipologia di allegato: Author’s Accepted Manuscript, AAM (Post-print)
Dimensione 719.1 kB
Formato Adobe PDF
719.1 kB Adobe PDF   Visualizza/Apri   Richiedi una copia

I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.

Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/10281/205485
Citazioni
  • Scopus 4
  • ???jsp.display-item.citation.isi??? 4
Social impact