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One gene, two different diseases

机译:一个基因,两种不同的疾病

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摘要

Gonadotropin releasing hormone (GnRH) deficiency in humans can cause idiopathic hypogonadotropic hypogonadism (IHH) characterized by incomplete sexual maturation and infertility. Patients with IHH may have a normal sense of smell (normosrnmic IHH, nIHH) or none at all (Kallmann syndrome, KS). A few genes have been implicated in these diseases. Nelly Pitteloud et al. report that mutation of the prokineticin 2 gene (PROK2) can cause both KS and nIHH. PROK2 has been previously studied because of its expression in the suprachiasmatic nucleus, the CNS central "clock"; recently, it has also been identified as a key player in morphogenesis of the olfactory bulb, the system over which GnRH neurons are known to migrate during development.
机译:人体中促性腺激素释放激素(GnRH)的缺乏会导致特发性性腺功能低下性腺机能减退(IHH),其特征是性交不成熟和不育。 IHH患者可能具有正常的嗅觉(正常IHH,nIHH)或完全没有嗅觉(Kallmann综合征,KS)。一些基因与这些疾病有关。 Nelly Pitteloud等。报告指出促动素2基因(PROK2)的突变可同时导致KS和nIHH。以前已经研究过PROK2,因为它在视交叉上核中枢神经系统中央“时钟”中表达。最近,它也被认为是嗅球形态发生的关键参与者,该系统已知在发育过程中GnRH神经元在该系统上迁移。

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