Targeting GH-1 splicing as a novel pharmacological strategy for growth hormone deficiency type II
Biochemical Pharmacology(2017)
Abstract
Isolated growth hormone deficiency type II (IGHD II) is a rare genetic splicing disorder characterized by reduced growth hormone (GH) secretion and short stature. It is mainly caused by autosomal dominant-negative mutations within the growth hormone gene (GH-1) which results in missplicing at the mRNA level and the subsequent loss of exon 3, producing the 17.5-kDa GH isoform: a mutant and inactive GH protein that reduces the stability and the secretion of the 22-kDa GH isoform, the main biologically active GH form.
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Key words
Growth hormone,GH-1 gene,Short stature,Growth hormone deficiency type II,Splicing modulation
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