Isolated growth hormone deficiency type 2: from gene to therapy

Miletta, Maria Consolata; Lochmatter, Didier; Pektovic, Vibor; Mullis, Primus-E (2012). Isolated growth hormone deficiency type 2: from gene to therapy. Endocrine development, 23, pp. 109-120. Basel: Karger 10.1159/000341766

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Isolated growth hormone deficiency type-2 (IGHD-2), the autosomal-dominant form of GH deficiency, is mainly caused by specific splicing mutations in the human growth hormone (hGH) gene (GH-1). These mutations, occurring in and around exon 3, cause complete exon 3 skipping and produce a dominant-negative 17.5 kD GH isoform that reduces the accumulation and secretion of wild type-GH (wt-GH). At present, patients suffering from IGHD-2 are treated with daily injections of recombinant human GH (rhGH) in order to reach normal height. However, this type of replacement therapy, although effective in terms of growth, does not prevent toxic effects of the 17.5-kD mutant on the pituitary gland, which can eventually lead to other hormonal deficiencies. Considering a well-known correlation between the clinical severity observed in IGHD-2 patients and the increased expression of the 17.5-kD isoform, therapies that specifically target this isoform may be useful in patients with GH-1 splicing defects. This chapter focuses on molecular strategies that could represent future directions for IGHD-2 treatment.

Item Type:	Journal Article (Original Article)
Division/Institute:	04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
UniBE Contributor:	Miletta, Maria Consolata, Mullis, Primus-Eugen
ISSN:	1421-7082
Publisher:	Karger
Language:	English
Submitter:	Anette van Dorland
Date Deposited:	04 Oct 2013 14:41
Last Modified:	05 Dec 2022 14:12
Publisher DOI:	10.1159/000341766
PubMed ID:	23182825
Web of Science ID:	000315535500010
URI:	https://boris.unibe.ch/id/eprint/16549 (FactScience: 224204)