Increased mtDNA Abundance and Improved Function in Human Barth Syndrome Patient Fibroblasts Following AAV-
AAV
Barth syndrome
TMEM65
fibroblasts
gene therapy
mitochondrial disease
mtDNA copy numbers
Journal
International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791
Informations de publication
Date de publication:
11 Jul 2019
11 Jul 2019
Historique:
received:
16
06
2019
revised:
08
07
2019
accepted:
09
07
2019
entrez:
25
7
2019
pubmed:
25
7
2019
medline:
24
12
2019
Statut:
epublish
Résumé
Barth syndrome (BTHS) is a rare, X-linked, mitochondrial disorder caused by mutations in the gene encoding tafazzin. BTHS results in cardiomyopathy, muscle fatigue, and neutropenia in patients. Tafazzin is responsible for remodeling cardiolipin, a key structural lipid of the inner mitochondrial membrane. As symptoms can vary in severity amongst BTHS patients, we sought to compare mtDNA copy numbers, mitochondrial fragmentation, and functional parameters between primary dermal BTHS fibroblasts isolated from patients with two different mutations in the
Identifiants
pubmed: 31336787
pii: ijms20143416
doi: 10.3390/ijms20143416
pmc: PMC6678701
pii:
doi:
Substances chimiques
DNA, Mitochondrial
0
Transcription Factors
0
Acyltransferases
EC 2.3.-
TAFAZZIN protein, human
EC 2.3.1.-
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : American Heart Association
ID : #17SDG33410467
Organisme : NHLBI NIH HHS
ID : R01 HL136759
Pays : United States
Organisme : Barth Syndrome Foundation
ID : AGR DTD 03-06-2015
Organisme : NHLBI NIH HHS
ID : R01 HL107406-01A1
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL136759-01A1
Pays : United States
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