Acrodysostosis type 2 is caused by mutations in cAMP-specific phosphodiesterase 4D (PDE4D).
Recently, genetic defects in cAMP-dependent protein kinase type 1-[alpha] regulatory subunit (PRKAR1A) and cAMP-specific phosphodiesterase 4D (PDE4D) were identified in patients with acrodysostosis by candidate gene analysis (4) and exome sequencing (2,5) respectively.
Aortic rings were incubated in 500 mL of Krebs solution alone or with cAMP-specific phosphodiesterase
inhibitor ([10.sup.-7] M rolipram) at 37[degrees]C in a shaker bath.
Impaired growth and fertility of cAMP-specific phosphodiesterase
The cAMP-specific phosphodiesterase
inhibitor RO-20-1724 induced no metamorphosis and was toxic at the highest concentra-tion of [10.sup.-3] mol [1.sup.-1].
Whereas these compounds inhibit phosphodiesterases in general, RO-20-1724 is a selective inhibitor of the mammalian cAMP-specific phosphodiesterase
IV (Thompson, 1993).
Duman, "Regulation of cAMP-specific phosphodiesterases
type 4B and 4D (PDE4) splice variants by cAMP signaling in primary cortical neurons," Journal of Neurochemistry, vol.