Hypertension linked to PDE3A activation

Miles Houslay

doi:10.1038/ng.3316

Hypertension linked to PDE3A activation

Nat Genet. 2015 Jun;47(6):562-3. doi: 10.1038/ng.3316.

Author

Miles Houslay¹

Affiliation

¹ Institute of Pharmaceutical Science, King's College London, London, UK, and Mironid, Ltd., BioCity Scotland, Newhouse, UK.

PMID: 26018892
DOI: 10.1038/ng.3316

Abstract

A new study identifies PDE3A mutations as the cause of brachydactyly type E with hypertension. These mutations alter PDE3A activity by uncovering cryptic sites for phosphorylation by PKA and PKC, leading to enzyme hyperactivation that abnormally lowers cAMP levels.

MeSH terms

Cyclic Nucleotide Phosphodiesterases, Type 3 / genetics*
Genetic Association Studies
Genetic Predisposition to Disease
Humans
Hypertension / enzymology
Hypertension / genetics

Substances

Cyclic Nucleotide Phosphodiesterases, Type 3
PDE3A protein, human