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首页> 外文期刊>The European Journal of Neuroscience >From genes to pain: Nerve growth factor and hereditary sensory and autonomic neuropathy type V
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From genes to pain: Nerve growth factor and hereditary sensory and autonomic neuropathy type V

机译：从基因到疼痛：神经生长因子和遗传性感和自主神经病变型

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Hereditary sensory and autonomic neuropathy type V (HSAN V) is an autosomal recessive disorder characterized by the loss of deep pain perception. The anomalous pain and temperature sensations are due to the absence of nociceptive sensory innervation. The neurotrophin nerve growth factor (NGF), by binding to tropomyosin receptor A (TrkA) and p75NTR receptors, is essential for the development and survival of sensory neurons, and for pain perception during adulthood. Recently a homozygous missense mutation (R100W) in the NGF gene has been identified in HSAN V patients. Interestingly, alterations in NGF signalling, due to mutations in the NGF TRKA gene, have also been involved in another congenital insensitivity to pain, HSAN IV, characterized not only by absence of reaction to painful stimuli, but also anhidrosis and mental retardation. These symptoms are absent in HSAN V patients. Unravelling the mechanisms that underlie the differences between HSAN IV and V could assist in better understanding NGF biology. This review highlights the recent key findings in the understanding of HSAN V, including insights into the molecular mechanisms of the disease, derived from genetic studies of patients with this disorder. Hereditary sensory and autonomic neuropathy type V (HSAN V) is an autosomal recessive disorder characterized by the loss of deep pain perception linked to missense mutation (R100W) in the NGF gene. This review highlights the recent key findings in the understanding of HSAN V, including insights into the molecular mechanisms of the disease, derived from genetic studies of patients with this disorder.
机译：遗传性感官和自主神经病变型V（Hsan v）是一种常染色体隐性障碍，其特征在于深疼痛感知的丧失。异常的疼痛和温度感觉是由于没有伤害性感官的内脏。通过与对血染蛋白受体A（TRKA）和P75TR受体结合的神经营养素神经生长因子（NGF）对于感官神经元的发育和存活以及成年期间的疼痛感知至关重要。最近，在HSAN V患者中鉴定了NGF基因中的纯合物畸变突变（R100W）。有趣的是，由于NGF Trka基因的突变，NGF信号传导的改变也涉及另一个对疼痛，Hsan IV的先天性内敏感性，其特征不仅是因为没有对疼痛刺激的反应，而且还具有畸形和精神发育迟滞。在HSAN V患者中缺乏这些症状。解开利用HSAN IV和V之间的差异的机制可以帮助更好地了解NGF生物学。本综述突出了最近对HSAN V的理解中的主要发现，包括患有这种疾病患者的遗传研究的疾病的分子机制的见解。遗传性感和自主神经病变型V（HSAN v）是一种常染色体隐性障碍，其特征，其特征在于NGF基因中与畸形突变（R100W）相关的深疼痛感性的丧失。本综述突出了最近对HSAN V的理解中的主要发现，包括患有这种疾病患者的遗传研究的疾病的分子机制的见解。

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