Synergistic Deoxynucleoside and Gene Therapies for Thymidine Kinase 2 Deficiency.
Journal
Annals of neurology
ISSN: 1531-8249
Titre abrégé: Ann Neurol
Pays: United States
ID NLM: 7707449
Informations de publication
Date de publication:
10 2021
10 2021
Historique:
revised:
30
07
2021
received:
06
12
2020
accepted:
31
07
2021
pubmed:
3
8
2021
medline:
15
12
2021
entrez:
2
8
2021
Statut:
ppublish
Résumé
Autosomal recessive human thymidine kinase 2 (TK2) mutations cause TK2 deficiency, which typically manifests as a progressive and fatal mitochondrial myopathy in infants and children. Treatment with pyrimidine deoxynucleosides deoxycytidine and thymidine ameliorates mitochondrial defects and extends the lifespan of Tk2 knock-in mouse (Tk2 We generated pAAVsc CB6 PI vectors containing human TK2 cDNA (TK2). Adeno-associated virus (AAV)-TK2 was administered to Tk2 AAV9 delivery of human TK2 cDNA to Tk2 Our data indicate that AAV-TK2 gene therapy as well as combination deoxynucleoside and gene therapies is more effective in Tk2
Identifiants
pubmed: 34338329
doi: 10.1002/ana.26185
pmc: PMC9307066
mid: NIHMS1822465
doi:
Substances chimiques
DNA, Mitochondrial
0
thymidine kinase 2
EC 2.7.1.-
Thymidine Kinase
EC 2.7.1.21
Thymidine
VC2W18DGKR
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Langues
eng
Sous-ensembles de citation
IM
Pagination
640-652Subventions
Organisme : NICHD NIH HHS
ID : P01 HD080642
Pays : United States
Organisme : NICHD NIH HHS
ID : P01 HD032062
Pays : United States
Organisme : NINDS NIH HHS
ID : U54 NS078059
Pays : United States
Commentaires et corrections
Type : ErratumIn
Informations de copyright
© 2021 American Neurological Association.
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