Metabolic characteristics of transmembrane prolyl 4-hydroxylase (P4H-TM) deficient mice.

ABSTRACT: Transmembrane prolyl 4-hydroxylase (P4H-TM) is an enigmatic enzyme whose cellular function and primary substrate remain to be identified. Its loss-of-function mutations cause a severe neurological HIDEA syndrome with hypotonia, intellectual disability, dysautonomia and hypoventilation. Previously, P4H-TM deficiency in mice was associated with reduced atherogenesis and lower serum triglyceride levels. Here, we characterized the glucose and lipid metabolism of P4h-tm^-/- mice in physiological and tissue analyses. P4h-tm^-/- mice showed variations in 24-h oscillations of energy expenditure, VO₂ and VCO₂ and locomotor activity compared to wild-type (WT) mice. Their rearing activity was reduced, and they showed significant muscle weakness and compromise

SUBMITTER: Ala-Nisula T 

PROVIDER: S-EPMC11310233 | biostudies-literature | 2024 Sep

REPOSITORIES: biostudies-literature