What question did this study set out to answer?

To identify and characterize the genetic cause of congenital megabladder and investigate the in vivo role of myocardin in human disease and mammalian development.

September 12, 2019Journal of Clinical InvestigationOpen Access

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

View Full Paper

Ask AI

Bookmark

Authors

AHArjan C. HouwelingHeart Failure & Transplant GBGlenda M. BeamanUniversity of Manchester APAlex V. PostmaAmsterdam University Medical Centers

Discussion

Member takes

Implication

Genetic and functional study reveals congenital megabladder caused by myocardin loss-of-function variants in humans and mice, indicating an essential role in smooth muscle organogenesis.

Key Points

To identify and characterize the genetic cause of congenital megabladder and investigate the in vivo role of myocardin in human disease and mammalian development.
Conducted genetic cosegregation analyses in four unrelated families presenting with congenital megabladder.
Assessed smooth muscle gene transactivation in vitro using wild-type and mutant myocardin constructs.
Evaluated bladder phenotypes in two distinct mouse models engineered with reduced Myocd activity.
Monoallelic loss-of-function MYOCD variants caused severe congenital megabladder with disrupted smooth muscle specifically in males across four unrelated families.
Biallelic MYOCD variants resulted in megabladder in both sexes, accompanied by severe cardiovascular system defects.
In vitro assays showed abolished smooth muscle gene expression, and two reduced-activity Myocd mouse models accurately recapitulated the megabladder phenotype.

Cite This Study

Houweling et al. (2019) studied this question.

synapsesocial.com/papers/69ded5803ebf685791e93926 https://doi.org/10.1172/jci128545

View Full Paper

Ask AI

Bookmark

Implication

Genetic and functional study reveals congenital megabladder caused by myocardin loss-of-function variants in humans and mice, indicating an essential role in smooth muscle organogenesis.

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

Discussion

Member takes

Implication

Key Points

Cite This Study

Loss-of-function variants in myocardin cause congenital megabladder in humans and mice

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider