Multiple endocrine neoplasia type 1.
Multiple endocrine neoplasia type 1.
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DOI：
10.1159/000345666
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发表时间：
2013
影响因子：
--
通讯作者：
Agarwal SK
中科院分区：
文献类型：
--
作者：
Agarwal SK
多发性内分泌瘤1型（MEN1）是一种常染色体显性肿瘤综合征，其特征是肿瘤发生在多个内分泌组织和非内分泌组织。最常受肿瘤影响的三种主要内分泌组织是甲状旁腺（95%）、肠胰腺神经内分泌（50%）和垂体前叶（40%）。肿瘤是由MEN1基因中的杂合种系失活突变（第一次命中）引起的，随后是体细胞失活突变或基因正常拷贝的丢失（第二次命中），导致编码蛋白menin的功能完全丧失。大多数疾病特征和肿瘤在Men1基因杂合子种系缺失的小鼠模型中重现。此外，在Men1基因纯合体细胞丢失的小鼠模型中观察到组织特异性肿瘤，特别是在MEN 1相关内分泌组织中。因此，小鼠模型可以作为研究MEN1和相关状态的可能替代物。为了深入了解MEN1的病理生理学，已经确定了menin相互作用的伴侣和途径，以研究其肿瘤抑制和其他功能。此外，menin的3D晶体结构已被破译，这可能有助于揭示MEN1基因突变和menin相互作用的相关性。本章涵盖了MEN1综合征，MEN1基因及其产物蛋白menin的临床，遗传和基本研究结果。
Multiple endocrine neoplasia type 1 (MEN1) is an autosomal-dominant tumor syndrome characterized by the occurrence of tumors in multiple endocrine tissues and nonendocrine tissues. The three main endocrine tissues most frequently affected by tumors are parathyroid (95%), enteropancreatic neuroendocrine (50%) and anterior pituitary (40%). Tumors are caused by a heterozygous germ-line-inactivating mutation in the MEN1 gene (1st hit) followed by somatic inactivating mutation or loss of the normal copy of the gene (2nd hit), leading to complete loss of function of the encoded protein menin. Most of the disease features and tumors are recapitulated in mouse models with heterozygous germline loss of the Men1 gene. Also, tissue-specific tumors are observed in mouse models with homozygous somatic loss of the Men1 gene specifically in MEN1-associated endocrine tissues. Hence, mouse models could serve as possible surrogates for studying MEN1 and related states. To gain insights into MEN1 pathophysiology, menin-interacting partners and pathways have been identified to investigate its tumor suppressor and other functions. Also, the 3D crystal structure of menin has been deciphered which could be useful to reveal the relevance of MEN1 gene mutations and menin’s interactions. This chapter covers clinical, genetic and basic findings about the MEN1 syndrome, MEN1 gene and its product protein menin.
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影响因子：
16
作者：
Hughes, CM;Rozenblatt-Rosen, O;Meyerson, M
通讯作者：
Meyerson, M
影响因子：
64.8
作者：
LARSSON, C;SKOGSEID, B;NORDENSKJOLD, M
通讯作者：
NORDENSKJOLD, M
影响因子：
64.5
作者：
Agarwal, SK;Guru, SC;Burns, AL
通讯作者：
Burns, AL
影响因子：
64.8
作者：
Huang, Jing;Gurung, Buddha;Wan, Bingbing;Matkar, Smita;Veniaminova, Natalia A.;Wan, Ke;Merchant, Juanita L.;Hua, Xianxin;Lei, Ming
通讯作者：
Lei, Ming
影响因子：
--
作者：
Agarwal, Sunita K.;Ozawa, Atsushi;Marx, Stephen J.
通讯作者：
Marx, Stephen J.