An In Vitro Approach to Study Mitochondrial Dysfunction: A Cybrid Model.


Journal

Journal of visualized experiments : JoVE
ISSN: 1940-087X
Titre abrégé: J Vis Exp
Pays: United States
ID NLM: 101313252

Informations de publication

Date de publication:
09 03 2022
Historique:
entrez: 28 3 2022
pubmed: 29 3 2022
medline: 8 4 2022
Statut: epublish

Résumé

Deficiency of the mitochondrial respiratory chain complexes that carry out oxidative phosphorylation (OXPHOS) is the biochemical marker of human mitochondrial disorders. From a genetic point of view, the OXPHOS represents a unique example because it results from the complementation of two distinct genetic systems: nuclear DNA (nDNA) and mitochondrial DNA (mtDNA). Therefore, OXPHOS defects can be due to mutations affecting nuclear and mitochondrial encoded genes. The groundbreaking work by King and Attardi, published in 1989, showed that human cell lines depleted of mtDNA (named rho

Identifiants

pubmed: 35343952
doi: 10.3791/63452
doi:

Substances chimiques

DNA, Mitochondrial 0

Types de publication

Journal Article Research Support, Non-U.S. Gov't Video-Audio Media

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Andrea Cavaliere (A)

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta.

Silvia Marchet (S)

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta.

Ivano Di Meo (I)

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta; ivano.dimeo@istituto-besta.it.

Valeria Tiranti (V)

Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta.

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Classifications MeSH