Mitochondrial disorders

Massimo Zeviani, Valerio Carelli

Research output: Contribution to journalArticle

Abstract

Purpose of review: We present here a review of the most recent and relevant contributions on the genetic, biochemical and clinical aspects of mitochondrial biogenesis and disease. The field of mitochondrial medicine is evolving fast. After more than 10 years of investigation into mitochondrial DNA defects, a new impulse is now due to progress in three main areas of research. Recent findings: Some of the basic notions on mitochondrial genetics are being challenged by new data on fundamental biological functions such as mitochondrial DNA replication, transcription and the nuclear control of mitochondrial DNA variations, with important implications in the understanding of the molecular mechanisms of disease. The rapidly increasing identification of nuclear genes responsible for oxidative phosphorylation-related disorders, has greatly broadened the concept of mitochondrial disease. Summary: The development of animal models and the use of multiple strategies are all accelerating our understanding of the pathogenesis in mitochondrial disorders, by integrating in-vivo, in-vitro and in-silico approaches. Finally, some interesting progress has recently been made on gene therapy, giving hope for the future treatment of these conditions.

Original languageEnglish
Pages (from-to)585-594
Number of pages10
JournalCurrent Opinion in Neurology
Volume16
Issue number5
DOIs
Publication statusPublished - Oct 2003

Fingerprint

Mitochondrial Diseases
Mitochondrial DNA
Oxidative Phosphorylation
Organelle Biogenesis
DNA Replication
Genetic Therapy
Computer Simulation
Molecular Biology
Animal Models
Medicine
Research
Genes
Therapeutics

Keywords

  • Heteroplasmy
  • Mitochondrial disease
  • Oxidative phosphorylation
  • Reactive oxygen species
  • Respiratory chain

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Mitochondrial disorders. / Zeviani, Massimo; Carelli, Valerio.

In: Current Opinion in Neurology, Vol. 16, No. 5, 10.2003, p. 585-594.

Research output: Contribution to journalArticle

Zeviani, Massimo ; Carelli, Valerio. / Mitochondrial disorders. In: Current Opinion in Neurology. 2003 ; Vol. 16, No. 5. pp. 585-594.
@article{3d58694066954b70a09ffc3ca8b87c8b,
title = "Mitochondrial disorders",
abstract = "Purpose of review: We present here a review of the most recent and relevant contributions on the genetic, biochemical and clinical aspects of mitochondrial biogenesis and disease. The field of mitochondrial medicine is evolving fast. After more than 10 years of investigation into mitochondrial DNA defects, a new impulse is now due to progress in three main areas of research. Recent findings: Some of the basic notions on mitochondrial genetics are being challenged by new data on fundamental biological functions such as mitochondrial DNA replication, transcription and the nuclear control of mitochondrial DNA variations, with important implications in the understanding of the molecular mechanisms of disease. The rapidly increasing identification of nuclear genes responsible for oxidative phosphorylation-related disorders, has greatly broadened the concept of mitochondrial disease. Summary: The development of animal models and the use of multiple strategies are all accelerating our understanding of the pathogenesis in mitochondrial disorders, by integrating in-vivo, in-vitro and in-silico approaches. Finally, some interesting progress has recently been made on gene therapy, giving hope for the future treatment of these conditions.",
keywords = "Heteroplasmy, Mitochondrial disease, Oxidative phosphorylation, Reactive oxygen species, Respiratory chain",
author = "Massimo Zeviani and Valerio Carelli",
year = "2003",
month = "10",
doi = "10.1097/00019052-200310000-00004",
language = "English",
volume = "16",
pages = "585--594",
journal = "Current Opinion in Neurology",
issn = "1350-7540",
publisher = "Lippincott Williams and Wilkins",
number = "5",

}

TY - JOUR

T1 - Mitochondrial disorders

AU - Zeviani, Massimo

AU - Carelli, Valerio

PY - 2003/10

Y1 - 2003/10

N2 - Purpose of review: We present here a review of the most recent and relevant contributions on the genetic, biochemical and clinical aspects of mitochondrial biogenesis and disease. The field of mitochondrial medicine is evolving fast. After more than 10 years of investigation into mitochondrial DNA defects, a new impulse is now due to progress in three main areas of research. Recent findings: Some of the basic notions on mitochondrial genetics are being challenged by new data on fundamental biological functions such as mitochondrial DNA replication, transcription and the nuclear control of mitochondrial DNA variations, with important implications in the understanding of the molecular mechanisms of disease. The rapidly increasing identification of nuclear genes responsible for oxidative phosphorylation-related disorders, has greatly broadened the concept of mitochondrial disease. Summary: The development of animal models and the use of multiple strategies are all accelerating our understanding of the pathogenesis in mitochondrial disorders, by integrating in-vivo, in-vitro and in-silico approaches. Finally, some interesting progress has recently been made on gene therapy, giving hope for the future treatment of these conditions.

AB - Purpose of review: We present here a review of the most recent and relevant contributions on the genetic, biochemical and clinical aspects of mitochondrial biogenesis and disease. The field of mitochondrial medicine is evolving fast. After more than 10 years of investigation into mitochondrial DNA defects, a new impulse is now due to progress in three main areas of research. Recent findings: Some of the basic notions on mitochondrial genetics are being challenged by new data on fundamental biological functions such as mitochondrial DNA replication, transcription and the nuclear control of mitochondrial DNA variations, with important implications in the understanding of the molecular mechanisms of disease. The rapidly increasing identification of nuclear genes responsible for oxidative phosphorylation-related disorders, has greatly broadened the concept of mitochondrial disease. Summary: The development of animal models and the use of multiple strategies are all accelerating our understanding of the pathogenesis in mitochondrial disorders, by integrating in-vivo, in-vitro and in-silico approaches. Finally, some interesting progress has recently been made on gene therapy, giving hope for the future treatment of these conditions.

KW - Heteroplasmy

KW - Mitochondrial disease

KW - Oxidative phosphorylation

KW - Reactive oxygen species

KW - Respiratory chain

UR - http://www.scopus.com/inward/record.url?scp=0142042350&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0142042350&partnerID=8YFLogxK

U2 - 10.1097/00019052-200310000-00004

DO - 10.1097/00019052-200310000-00004

M3 - Article

C2 - 14501842

AN - SCOPUS:0142042350

VL - 16

SP - 585

EP - 594

JO - Current Opinion in Neurology

JF - Current Opinion in Neurology

SN - 1350-7540

IS - 5

ER -