Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function

Luisa Iommarini, Susana Peralta, Alessandra Torraco, Francisca Diaz

Research output: Contribution to journalArticle

17 Citations (Scopus)

Abstract

Mitochondrial disorders are defined as defects that affect the oxidative phosphorylation system (OXPHOS). They are characterized by a heterogeneous array of clinical presentations due in part to a wide variety of factors required for proper function of the components of the OXPHOS system. There is no cure for these disorders owing to our poor knowledge of the pathogenic mechanisms of disease. To understand the mechanisms of human disease numerous mouse models have been developed in recent years. Here we summarize the features of several mouse models of mitochondrial diseases directly related to those factors affecting mtDNA maintenance, replication, transcription, translation as well as other proteins that are involved in mitochondrial dynamics and quality control which affect mitochondrial OXPHOS function without being intrinsic components of the system. We discuss how these models have contributed to our understanding of mitochondrial diseases and their pathogenic mechanisms.

Original languageEnglish (US)
Pages (from-to)96-118
Number of pages23
JournalMitochondrion
Volume22
DOIs
StatePublished - May 1 2015

Fingerprint

Mitochondrial Diseases
Oxidative Phosphorylation
Mitochondrial Dynamics
Mitochondrial DNA
Quality Control
Maintenance
Proteins

Keywords

  • Mitochondrial diseases
  • Mitochondrial DNA
  • Mitochondrial dynamics
  • Mitochondrial transcription
  • Mouse models
  • Quality control

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology
  • Molecular Medicine

Cite this

Mitochondrial Diseases Part II : Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function. / Iommarini, Luisa; Peralta, Susana; Torraco, Alessandra; Diaz, Francisca.

In: Mitochondrion, Vol. 22, 01.05.2015, p. 96-118.

Research output: Contribution to journalArticle

@article{f0334cd4307f4cdcb293e6aa19b8d27a,
title = "Mitochondrial Diseases Part II: Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function",
abstract = "Mitochondrial disorders are defined as defects that affect the oxidative phosphorylation system (OXPHOS). They are characterized by a heterogeneous array of clinical presentations due in part to a wide variety of factors required for proper function of the components of the OXPHOS system. There is no cure for these disorders owing to our poor knowledge of the pathogenic mechanisms of disease. To understand the mechanisms of human disease numerous mouse models have been developed in recent years. Here we summarize the features of several mouse models of mitochondrial diseases directly related to those factors affecting mtDNA maintenance, replication, transcription, translation as well as other proteins that are involved in mitochondrial dynamics and quality control which affect mitochondrial OXPHOS function without being intrinsic components of the system. We discuss how these models have contributed to our understanding of mitochondrial diseases and their pathogenic mechanisms.",
keywords = "Mitochondrial diseases, Mitochondrial DNA, Mitochondrial dynamics, Mitochondrial transcription, Mouse models, Quality control",
author = "Luisa Iommarini and Susana Peralta and Alessandra Torraco and Francisca Diaz",
year = "2015",
month = "5",
day = "1",
doi = "10.1016/j.mito.2015.01.008",
language = "English (US)",
volume = "22",
pages = "96--118",
journal = "Mitochondrion",
issn = "1567-7249",
publisher = "Elsevier",

}

TY - JOUR

T1 - Mitochondrial Diseases Part II

T2 - Mouse models of OXPHOS deficiencies caused by defects in regulatory factors and other components required for mitochondrial function

AU - Iommarini, Luisa

AU - Peralta, Susana

AU - Torraco, Alessandra

AU - Diaz, Francisca

PY - 2015/5/1

Y1 - 2015/5/1

N2 - Mitochondrial disorders are defined as defects that affect the oxidative phosphorylation system (OXPHOS). They are characterized by a heterogeneous array of clinical presentations due in part to a wide variety of factors required for proper function of the components of the OXPHOS system. There is no cure for these disorders owing to our poor knowledge of the pathogenic mechanisms of disease. To understand the mechanisms of human disease numerous mouse models have been developed in recent years. Here we summarize the features of several mouse models of mitochondrial diseases directly related to those factors affecting mtDNA maintenance, replication, transcription, translation as well as other proteins that are involved in mitochondrial dynamics and quality control which affect mitochondrial OXPHOS function without being intrinsic components of the system. We discuss how these models have contributed to our understanding of mitochondrial diseases and their pathogenic mechanisms.

AB - Mitochondrial disorders are defined as defects that affect the oxidative phosphorylation system (OXPHOS). They are characterized by a heterogeneous array of clinical presentations due in part to a wide variety of factors required for proper function of the components of the OXPHOS system. There is no cure for these disorders owing to our poor knowledge of the pathogenic mechanisms of disease. To understand the mechanisms of human disease numerous mouse models have been developed in recent years. Here we summarize the features of several mouse models of mitochondrial diseases directly related to those factors affecting mtDNA maintenance, replication, transcription, translation as well as other proteins that are involved in mitochondrial dynamics and quality control which affect mitochondrial OXPHOS function without being intrinsic components of the system. We discuss how these models have contributed to our understanding of mitochondrial diseases and their pathogenic mechanisms.

KW - Mitochondrial diseases

KW - Mitochondrial DNA

KW - Mitochondrial dynamics

KW - Mitochondrial transcription

KW - Mouse models

KW - Quality control

UR - http://www.scopus.com/inward/record.url?scp=84937971950&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84937971950&partnerID=8YFLogxK

U2 - 10.1016/j.mito.2015.01.008

DO - 10.1016/j.mito.2015.01.008

M3 - Article

C2 - 25640959

AN - SCOPUS:84937971950

VL - 22

SP - 96

EP - 118

JO - Mitochondrion

JF - Mitochondrion

SN - 1567-7249

ER -