PAPPA2 as a Therapeutic Modulator of IGF-I Bioavailability: in Vivo and in Vitro Evidence.

ABSTRACT:

Context

Pregnancy-associated plasma protein A2 (PAPPA2) is a protease that cleaves IGF-binding protein (IGFBP)-3 and IGFBP-5, liberating free IGF-I. Five patients from two families with genetic mutations in PAPPA2 presented with growth retardation, elevated total IGF-I, and IGFBP-3 but decreased free IGF-I.

Objective

To determine whether plasma transfusion or recombinant human (rh)PAPPA2 could increase free IGF-I in patients with PAPPA2 deficiency or idiopathic short stature (ISS).

Design

Single patient interventional study combined with in vitro experimentation.

Setting

Academic medical center.

Patients

Three siblings with PAPPA2 deficiency and four patients with ISS.

Interventions

An adult female with PAPPA2 deficiency received a 2

SUBMITTER: Andrew M 

PROVIDER: S-EPMC6009608 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature