Touraine P, Mbikay M, Seidah N G, Chrétien M
Laboratoire J.A. de Sève de Neuroendocrinologie Moléculaire, Institut de Recherches Cliniques de Montréal, Québec, Canada.
Ann Endocrinol (Paris). 1990;51(5-6):202-8.
The Prader-Willi syndrome is a human disease whose physiological causes have not yet been elucidated. However, clinical and biological parameters suggest that it is an hypothalamic disorder. This syndrome is the most common form of human congenital obesity. In many cases, the genetic alteration has been identified as a microdeletion in the chromosomal region 15q11-q13. Consequently, one can presume that obesity in patients with Prader-Willi syndrome is the result of some hypothalamic deficiency involving the products of one or several genes found in this region of chromosome 15. Several DNA markers belonging to this genomic region have been isolated. If these are fragments of expressed genes, it may be possible to examine the possible association of their products with the hypothalamus and the disease. Such studies may provide new insights into the role of the hypothalamus in the pathophysiology of obesity.
普拉德-威利综合征是一种生理病因尚未阐明的人类疾病。然而，临床和生物学参数表明它是一种下丘脑疾病。该综合征是人类先天性肥胖最常见的形式。在许多病例中，基因改变已被确定为染色体区域15q11-q13的微缺失。因此，可以推测普拉德-威利综合征患者的肥胖是涉及位于15号染色体该区域的一个或几个基因产物的某种下丘脑缺陷的结果。属于这个基因组区域的几个DNA标记已被分离出来。如果这些是表达基因的片段，那么就有可能研究它们的产物与下丘脑及该疾病之间可能存在的关联。此类研究可能会为下丘脑在肥胖病理生理学中的作用提供新的见解。
