In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.
PGM1 congenital disorder of glycosylation
PGM1 deficiency
in vitro muscle model
muscle energy homeostasis
muscle metabolic plasticity
phosphoglucomutase 1
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:
04 May 2023
04 May 2023
Historique:
received:
28
11
2022
revised:
03
04
2023
accepted:
25
04
2023
medline:
15
5
2023
pubmed:
13
5
2023
entrez:
13
5
2023
Statut:
epublish
Résumé
Phosphoglucomutase 1 (PGM1) is a key enzyme for the regulation of energy metabolism from glycogen and glycolysis, as it catalyzes the interconversion of glucose 1-phosphate and glucose 6-phosphate. PGM1 deficiency is an autosomal recessive disorder characterized by a highly heterogenous clinical spectrum, including hypoglycemia, cleft palate, liver dysfunction, growth delay, exercise intolerance, and dilated cardiomyopathy. Abnormal protein glycosylation has been observed in this disease. Oral supplementation with D-galactose efficiently restores protein glycosylation by replenishing the lacking pool of UDP-galactose, and rescues some symptoms, such as hypoglycemia, hepatopathy, and growth delay. However, D-galactose effects on skeletal muscle and heart symptoms remain unclear. In this study, we established an in vitro muscle model for PGM1 deficiency to investigate the role of PGM1 and the effect of D-galactose on nucleotide sugars and energy metabolism. Genome-editing of C2C12 myoblasts via CRISPR/Cas9 resulted in
Identifiants
pubmed: 37175952
pii: ijms24098247
doi: 10.3390/ijms24098247
pmc: PMC10179458
pii:
doi:
Substances chimiques
Galactose
X2RN3Q8DNE
Glucose
IY9XDZ35W2
Nucleotides
0
Phosphates
0
Phosphoglucomutase
EC 5.4.2.2
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Subventions
Organisme : Netherlands Organization for Scientific Research (NWO)
ID : VIDI Grant 91713359
Organisme : Prinses Beatrix Spierfonds
ID : Grant W.OR17-15
Organisme : Stichting Stofwisselkracht
ID : Grant no. 2019-2766-001
Organisme : UMD
ID : Catalyst grant UMD-CG-2020-006
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