Combination of common mtDNA variants results in mitochondrial dysfunction and a connective tissue dysregulation.
connective tissue disorder
histamine signaling
mitochondrial disorder
mtDNA haplogroups
Journal
Proceedings of the National Academy of Sciences of the United States of America
ISSN: 1091-6490
Titre abrégé: Proc Natl Acad Sci U S A
Pays: United States
ID NLM: 7505876
Informations de publication
Date de publication:
08 Nov 2022
08 Nov 2022
Historique:
entrez:
2
11
2022
pubmed:
3
11
2022
medline:
5
11
2022
Statut:
ppublish
Résumé
Mitochondrial dysfunction can be associated with a range of clinical manifestations. Here, we report a family with a complex phenotype including combinations of connective tissue, neurological, and metabolic symptoms that were passed on to all surviving children. Analysis of the maternally inherited mtDNA revealed a novel genotype encompassing the haplogroup J - defining mitochondrial DNA (mtDNA)
Identifiants
pubmed: 36322731
doi: 10.1073/pnas.2212417119
pmc: PMC9659340
doi:
Substances chimiques
DNA, Mitochondrial
0
Histamine
820484N8I3
Types de publication
Journal Article
Research Support, Non-U.S. Gov't
Research Support, U.S. Gov't, Non-P.H.S.
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
e2212417119Subventions
Organisme : NCI NIH HHS
ID : P01 CA196539
Pays : United States
Organisme : NIAID NIH HHS
ID : R01 AI118891
Pays : United States
Organisme : HHS | National Institutes of Health (NIH)
ID : OD010944
Organisme : HHS | National Institutes of Health (NIH)
ID : MH108592
Commentaires et corrections
Type : CommentIn
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