Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari

Translated title of the contribution: Mitochondrial diseases. Update on biochemical and molecular-genetic aspects

C. Bruno, M. Bado, M. Pedemonte, R. Lorini, A. Fois, G. Cordone, C. Minetti

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

Since the initial discovery of the first mitochondrial DNA (mtDNA) pathogenic mutations in 1988, there has been an explosion of information in the field of mitochondrial disorders. Dysfunction of mitochondria can be expressed in virtually every human organ system; in general, tissues with high oxidative metabolism requirement, such as brain and muscle, are more susceptible to respiratory chain defects and therefore are more vulnerable. However, recent observations show that a mitochondrial disorder can account for any presenting symptom in any organ and tissue at any age, with or without a symptom-free period. Therefore, due to their phenotypical heterogeneity and to the wide number of tissues affected, mitochondrial diseases can be difficult to diagnose. Laboratory investigations, including histology with histochemistry, immunohistochemistry, ultrastructural and biochemical analysis of affected tissues, has provided further insight into the pathogenesis of these disorders. In the last years, a deeper knowledge of the mitochondrial genetics has brought an incredible number of new data, and several mitochondrial disorders have been associated with mutations not only in the mtDNA, but also in the nuclear genome.

Original languageItalian
Pages (from-to)2-13
Number of pages12
JournalGaslini
Volume33
Issue number1
Publication statusPublished - 2001

Fingerprint

Mitochondrial Diseases
Molecular Biology
Mitochondrial DNA
Mutation
Explosions
Electron Transport
Histology
Mitochondria
Immunohistochemistry
Genome
Muscles
Brain

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

Cite this

Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari. / Bruno, C.; Bado, M.; Pedemonte, M.; Lorini, R.; Fois, A.; Cordone, G.; Minetti, C.

In: Gaslini, Vol. 33, No. 1, 2001, p. 2-13.

Research output: Contribution to journalArticle

Bruno, C. ; Bado, M. ; Pedemonte, M. ; Lorini, R. ; Fois, A. ; Cordone, G. ; Minetti, C. / Le malattie mitocondriali. Aggiornamento sugli aspetti biochimici e genetico-molecolari. In: Gaslini. 2001 ; Vol. 33, No. 1. pp. 2-13.
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