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Menin在骨病理学中的作用。

The role of menin in bone pathology.

作者信息

Gorbacheva Anna, Eremkina Anna, Goliusova Daria, Krupinova Julia, Mokrysheva Natalia

机构信息

Endocrinology Research Center, Moscow, Russian Federation.

出版信息

Endocr Connect. 2022 Mar 14;11(3):e210494. doi: 10.1530/EC-21-0494.

Abstract

Multiple endocrine neoplasia type 1 (MEN1) is the most common cause of hereditary primary hyperparathyroidism (PHPT). Bone disorders are considered one of the key symptoms in PHPT present with the significant reduction in bone mineral density and low-energy fractures. Previously, these bone disorders were believed to be caused solely by the increase in the level of parathyroid hormone and its subsequent effect on bone resorption. The current paradigm, however, states that the mutations in the menin gene, which cause the development of MEN1, can also affect the metabolism of the cells of the osteoid lineage. This review analyzes both the proven and the potential intracellular mechanisms through which menin can affect bone metabolism.

摘要

1型多发性内分泌腺瘤病(MEN1)是遗传性原发性甲状旁腺功能亢进症(PHPT)最常见的病因。骨疾病被认为是PHPT的关键症状之一,表现为骨矿物质密度显著降低和低能量骨折。以前,这些骨疾病被认为完全是由甲状旁腺激素水平升高及其随后对骨吸收的影响所致。然而,目前的观点认为,导致MEN1发生的menin基因突变也会影响类骨质谱系细胞的代谢。本文综述了menin影响骨代谢的已证实和潜在的细胞内机制。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/d1bb/8942318/f0eb5cefc755/EC-21-0494fig1.jpg

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