Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader-Willi patients : Indications for a processing defect

GABREËLS, B. A. T. F ; SWAAB, D. F ; et al.

In: The Journal of clinical endocrinology and metabolism, Jg. 83 (1998), Heft 2, S. 591-599

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7B2 is a neuroendocrine chaperone interacting with the prohormone convertase PC2 in the regulated secretory pathway. Its gene is located near the Prader-Willi syndrome (PWS) region on chromosome 15. In a previous study we were able to show 7B2 immunoreactivity in the supraoptic nucleus (SON) or the paraventricular nucleus (PVN) in only three of five PWS patients. Here we report that in contrast with five other PWS patients, the neurons in the hypothalamic SON and PVN of the two 7B2-immunonegative PWS patients also failed to show any reaction using two antibodies directed against processed vasopressin (VP). On the other hand, even these two cases reacted normally with five antibodies that recognize different parts of the VP precursor. This finding pointed to a processing defect. Indeed, the same patients had no PC2 immunoreactivity in the SON or PVN, whereas PC1 immunoreactivity was only slightly diminished. In conclusion, in the VP neurons of two PWS patients, greatly reduced amounts of 7B2 and PC2 are present, resulting in diminished VP precursor processing.

Titel:	Attenuation of the polypeptide 7B2, prohormone convertase PC2, and vasopressin in the hypothalamus of some Prader-Willi patients : Indications for a processing defect
Autor/in / Beteiligte Person:	GABREËLS, B. A. T. F ; SWAAB, D. F ; DE KLEIJN, D. P. V ; SEIDAH, N. G ; VAN DE LOO, J.-W ; VAN DE VEN, W. J. M ; MARTENS, G. J. M ; AN LEEUWEN, F. W
Link:	Full Text Finder (Volltext) View record from PASCAL Archive
Zeitschrift:	The Journal of clinical endocrinology and metabolism, Jg. 83 (1998), Heft 2, S. 591-599
Veröffentlichung:	Bethesda, MD: Endocrine Society, 1998
Medientyp:	academicJournal
Umfang:	print, 43 ref
ISSN:	0021-972X (print)
Schlagwort:	Europe Europa Pays Bas Netherlands Holanda Endocrinology Endocrinologie Nutrition, obesity, metabolic disorders Nutrition, obésité, maladies métaboliques Sciences biologiques et medicales Biological and medical sciences Sciences medicales Medical sciences Genetique medicale Medical genetics Syndromes complexes Complex syndromes Endocrinopathie Endocrinopathy Endocrinopatía Enzyme Enzima Homme Human Hombre Hormone neurohypophysaire Neurohypophyseal hormone Hormona neurohipofisaria Hormone peptide Peptide hormone Hormona péptido Hydrolases Maladie héréditaire Genetic disease Enfermedad hereditaria Neuropeptide Neuropéptido Peptidases Serine endopeptidases Syndrome complexe Complex syndrome Síndrome complejo Système ostéoarticulaire pathologie Diseases of the osteoarticular system Sistema osteoarticular patología Adulte Adult Adulto Etude cas Case study Estudio caso Exploration hormonale Hormonal investigation Análisis hormonal Hypothalamus Hipotálamo Noyau paraventriculaire Paraventricular nucleus Núcleo paraventricular Noyau supraoptique Supraoptic nucleus Núcleo supraóptico Pathogénie Pathogenesis Patogenia Polypeptide Polipéptido Postmortem Prader Labhart Willi syndrome Prader Labhart Willi síndrome Proprotein convertase II Vasopressine Vasopressin Subject Geographic: Europe Europa Pays Bas Netherlands Holanda
Sonstiges:	Nachgewiesen in: PASCAL Archive Sprachen: English Original Material: INIST-CNRS Document Type: Article File Description: text Language: English Author Affiliations: Graduate School Neurosciences, Netherlands Institute for Brain Research, Amsterdam, Netherlands ; Clinical Research Institute of Montreal, Montreal, Canada ; Laboratory for Molecular Oncology, Center for Human Genetics, Flanders Interuniversity Institute for Biotechnology, University of Leuven, Leuven, Belgium ; Department of Animal Physiology, University of Nijmegen, Nijmegen, Netherlands Rights: Copyright 1998 INIST-CNRS ; CC BY 4.0 ; Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS Notes: Medical genetics

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