Rosenkranz K, Hinney A, Ziegler A, von Prittwitz S, Barth N, Roth H, Mayer H, Siegfried W, Lehmkuhl G, Poustka F, Schmidt M, Schäfer H, Remschmidt H, Hebebrand J
Department of Child and Adolescent Psychiatry of the University of Marburg, Germany.
Int J Obes Relat Metab Disord. 1998 Feb;22(2):157-63. doi: 10.1038/sj.ijo.0800550.
The neuropeptide Y (NPY) Y5 receptor is presumed to be involved in the regulation of food intake.
To investigate the possible role of this receptor in weight regulation, the whole coding region of the NPY Y5 receptor gene was screened for mutations using temperature gradient gel electrophoresis (TGGE). Detected mutations were screened in extended cohorts. STUDY COHORTS AND METHODS: Cohorts of 87 extremely obese children and adolescents, 15 underweight subjects and 25 patients with anorexia nervosa (AN) were initially screened by TGGE. Extended samples of these cohorts (160 obese children and adolescents; mean body mass index (BMI) 33.5 +/- 6.4 kg/m2, 128 underweight subjects; mean BMI 18.4 +/- 1.0 kg/m2 and 58 patients with AN; mean BMI 14.6 +/- 1.7 kg/m2) were screened to determine the frequencies of a detected mutation and a detected polymorphism in the NPY Y5 receptor gene. In addition, a previously described polymorphism in the first intron of the NPY Y1 receptor gene was analysed.
The coding region of the NPY Y5 receptor gene encompasses one exon. A single mutation, which results in a non-conservative amino acid substitution in the first extracellular domain of the receptor (Glu-4-Ala), and one silent polymorphism (Gly-426-Gly-Gly) at nucleotide position 1278 (G-->A) were detected by TGGE. Both tests for association and linkage to the NPY Y1 and NPY Y5 receptor polymorphisms were negative among all cohorts. The Glu-4-Ala mutation was found only in a single patient with AN and her mother.
The results do not support a major role of the NPY Y5 receptor gene in the variability of body weight in children and adolescents.
神经肽Y（NPY）Y5受体被认为参与食物摄入的调节。
为研究该受体在体重调节中的可能作用，采用温度梯度凝胶电泳（TGGE）对NPY Y5受体基因的整个编码区进行突变筛查。在扩大的队列中对检测到的突变进行筛查。研究队列和方法：最初通过TGGE对87名极度肥胖儿童和青少年、15名体重过轻的受试者以及25名神经性厌食症（AN）患者的队列进行筛查。对这些队列的扩大样本（160名肥胖儿童和青少年；平均体重指数（BMI）33.5±6.4kg/m²，128名体重过轻的受试者；平均BMI 18.4±1.0kg/m²，以及58名AN患者；平均BMI 14.6±1.7kg/m²）进行筛查，以确定NPY Y5受体基因中检测到的突变和多态性的频率。此外，还分析了NPY Y1受体基因第一个内含子中先前描述的多态性。
NPY Y5受体基因的编码区包含一个外显子。通过TGGE检测到一个单一突变，该突变导致受体第一个细胞外结构域中的非保守氨基酸取代（Glu-4-Ala），以及在核苷酸位置1278（G→A）处的一个沉默多态性（Gly-426-Gly-Gly）。在所有队列中，与NPY Y1和NPY Y5受体多态性的关联和连锁测试均为阴性。Glu-4-Ala突变仅在一名AN患者及其母亲中发现。
结果不支持NPY Y5受体基因在儿童和青少年体重变化中起主要作用。
