CEDIE   05498
CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Unidad Ejecutora - UE
congresos y reuniones científicas
Título:
Growth Genetics Consortium: A Website devoted to the GH-IGF axis.
Autor/es:
VIVIAN HWA; JAN M. WIT; MARIE J.E. WALENKAMP; MARTIN O. SAVAGE; ALEXANDER JORGE; HORACIO M. DOMENÉ; HÉCTOR G. JASPER; ROLAND PFAFFLE; WIELAND KIESS; YVES LE BOUC; IRENE NETCHINE; JOEY WARREN; SARAH J DE VRIES; RON G. ROSENFELD
Lugar:
Boston, Massachussets
Reunión:
Congreso; 93th Annual Meeting of the Endocrine Society; 2011
Institución organizadora:
The Endocrine Society
Resumen:
Endocr Rev, Vol. 32 (03_MeetingAbstracts): P1-727 Copyright © 2011 by The Endocrine Society Growth Genetic Consortium Website: A Website Devoted to the GH-IGF Axis Vivian Hwa, PhD6, Jan M Wit, MD5, Marie J Walenkamp, MD, PhD10, Martin O Savage, MD2, Alexander A Jorge, MD, PhD8, Horacio M Domene, MS3, Hector G Jasper, MD3, Roland Pfaffle, MD4, Wieland Kiess, MD4, Yves Le Bouc, MD7, Irene Netchine, MD, PhD7, Joey Warren1, Sarah J DeVries9 and Ron G Rosenfeld, MD6 6, Jan M Wit, MD5, Marie J Walenkamp, MD, PhD10, Martin O Savage, MD2, Alexander A Jorge, MD, PhD8, Horacio M Domene, MS3, Hector G Jasper, MD3, Roland Pfaffle, MD4, Wieland Kiess, MD4, Yves Le Bouc, MD7, Irene Netchine, MD, PhD7, Joey Warren1, Sarah J DeVries9 and Ron G Rosenfeld, MD6 Project Management (JW), Barkani, Inc, New York, NY Endocrinology (MOS), Barts and the London School of Medicine & Dentistry, London UK Centro de Investigaciones Endocrinológicas (HMD,HGJ), Hospital de Niños Ricardo Gutiérrez, Buenos Aires Argentina Pediatric Endocrinology and Diabetes (RP,WK), Hospital for Children and Adolescents, University of Leipzig, Leipzig Germany Pediatrics (JMW), Leiden University Medical Center, Leiden Netherlands Pediatrics (VH,RGR), Oregon Health & Science University, Portland, OR Pediatrics Investigations, Hop Trousseau (YLB,IN), UMRS, 938, INSERM/UPMC, Paris France Endocrinology (AAJ), University of São Paulo, São Paulo Brazil Project Management (SJD), Veraxis Health Communications, Inc, Pine Brook, NJ Pediatrics (MJW), VU University Medical Center, Amsterdam Netherlands In mammals, growth hormone (GH) promotes postnatal growth through regulation of insulin-like growth factor (IGF)-I production. The binding of GH to cell surface GH receptors (GHR), induces multiple signaling cascades of which the STAT5b pathway has been shown to be the most critical for regulating IGF-I production. IGF-I is secreted and exerts its biological effects through endocrine as well as autocrine/paracrine mechanisms. Circulating IGF-I, in ternary complex with GH-regulated IGFBP-3 and ALS (acid labile subunit), is delivered to target tissues where it interacts with cell surface IGF-I receptors (IGF1R), resulting in growth promoting activities. Disruption of this complex chain of events can lead to clinical conditions of IGF deficiency (IGFD) or IGF resistance, GH insensitivity (GHI) and significant growth failure. Mutations in the GHR, STAT5B, and IGF1 genes result in IGFD and severe growth failure; mutations in the IGFALS gene (encoding for ALS) appear to affect only circulating IGF-I levels, resulting in severe IGFD, but only modest growth failure; mutations in the IGF1R gene induce resistance to IGF-I, leading to intrauterine growth retardation and poor postnatal growth. Interestingly, abnormalities in IGF-II expression (IGF2 gene), have involved epigenetic changes and mutation/deletions in the Imprinting Center Region 1.Goals: Access to phenotypic, biochemical and molecular data concerning all documented cases, in one central location, would be invaluable to clinicians and researchers interested in the GH-IGF axis. An international collaborative Growth Genetics Consortium was, therefore, formed to collate relevant documented information. The goals of this Consortium are as follows:?To create and curate a publicly available database and website for all documented molecular defects of the GH-IGF axis?To help guide the clinician in the identification, evaluation and management of patients with molecular defects of the GH-IGF axis?To describe phenotypic, biochemical and genotypic characteristics of all known patients with IGF deficiency or IGF resistance? To educate the medical profession and lay public about the causes of IGF deficiency and resistance Website: A website, http://www.growthgeneticsconsortium.org, has been established to facilitate access to collated information: Six genes are, for the present, included on this website, with 2 curators assigned for each gene. Submissions of new cases through the website are encouraged. GHR, STAT5B, and IGF1 genes result in IGFD and severe growth failure; mutations in the IGFALS gene (encoding for ALS) appear to affect only circulating IGF-I levels, resulting in severe IGFD, but only modest growth failure; mutations in the IGF1R gene induce resistance to IGF-I, leading to intrauterine growth retardation and poor postnatal growth. Interestingly, abnormalities in IGF-II expression (IGF2 gene), have involved epigenetic changes and mutation/deletions in the Imprinting Center Region 1.Goals: Access to phenotypic, biochemical and molecular data concerning all documented cases, in one central location, would be invaluable to clinicians and researchers interested in the GH-IGF axis. An international collaborative Growth Genetics Consortium was, therefore, formed to collate relevant documented information. The goals of this Consortium are as follows:?To create and curate a publicly available database and website for all documented molecular defects of the GH-IGF axis?To help guide the clinician in the identification, evaluation and management of patients with molecular defects of the GH-IGF axis?To describe phenotypic, biochemical and genotypic characteristics of all known patients with IGF deficiency or IGF resistance? To educate the medical profession and lay public about the causes of IGF deficiency and resistance Website: A website, http://www.growthgeneticsconsortium.org, has been established to facilitate access to collated information: Six genes are, for the present, included on this website, with 2 curators assigned for each gene. Submissions of new cases through the website are encouraged.