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Title: | Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism |
Authors: | Alsters, SIM Goldstone, AP Buxton, JL Zekavati, A Sosinsky, A Yiorkas, AM Holder, S Klaber, RE Bridges, N van Haelst, MM le Roux, CW Walley, AJ Walters, RG Mueller, M Blakemore, AIF |
Keywords: | Early-onset obesity;Melanocyte-stimulating hormone;Missense mutation;Fat/fat mice;E gene;Pituitary |
Issue Date: | 2015 |
Publisher: | Public Library of Science |
Citation: | PLOS ONE, 10(6): pp. 1-13, (2015) |
Abstract: | Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68). Analysis detected no CPE expression in whole blood-derived RNA from the proband, consistent with nonsense-mediated decay. The morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism seen in this individual recapitulates phenotypes in the previously described fat/fat and Cpe knockout mouse models, evidencing the importance of this peptide/hormone-processing enzyme in regulating body weight, metabolism, and brain and reproductive function in humans. |
URI: | http://bura.brunel.ac.uk/handle/2438/14639 |
DOI: | http://dx.doi.org/10.1371/journal.pone.0131417 |
ISSN: | 1932-6203 |
Appears in Collections: | Dept of Life Sciences Research Papers |
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