Magel2 Modulates Bone Remodeling and Mass in Prader-Willi Syndrome by Affecting Oleoyl Serine Levels and Activity.
BONE REMODELING
MAGEL2
OLEOYL SERINE
PRADER-WILLI SYNDROME
SCHAAF-YANG SYNDROME
Journal
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research
ISSN: 1523-4681
Titre abrégé: J Bone Miner Res
Pays: United States
ID NLM: 8610640
Informations de publication
Date de publication:
01 2019
01 2019
Historique:
received:
06
03
2018
revised:
30
07
2018
accepted:
08
09
2018
pubmed:
23
10
2018
medline:
9
4
2020
entrez:
23
10
2018
Statut:
ppublish
Résumé
Among a multitude of hormonal and metabolic complications, individuals with Prader-Willi syndrome (PWS) exhibit significant bone abnormalities, including decreased BMD, osteoporosis, and subsequent increased fracture risk. Here we show in mice that loss of Magel2, a maternally imprinted gene in the PWS critical region, results in reduced bone mass, density, and strength, corresponding to that observed in humans with PWS, as well as in individuals suffering from Schaaf-Yang syndrome (SYS), a genetic disorder caused by a disruption of the MAGEL2 gene. The low bone mass phenotype in Magel2
Substances chimiques
Antigens, Neoplasm
0
Magel2 protein, mouse
0
Proteins
0
Serine
452VLY9402
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
93-105Subventions
Organisme : NIH HHS
ID : U54HD08302
Pays : United States
Informations de copyright
© 2018 American Society for Bone and Mineral Research.