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首页> 外文期刊>Wiley Interdisciplinary Reviews. Developmental Biology >Fibrodysplasia ossificans progressiva: a human genetic disorder of extraskeletal bone formation, or--how does one tissue become another?.
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Fibrodysplasia ossificans progressiva: a human genetic disorder of extraskeletal bone formation, or--how does one tissue become another?.

机译：骨化性纤维增生：一种人类骨骼外骨骼形成的遗传疾病，或者-一种组织如何变成另一种？

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摘要

Fibrodysplasia ossificans progressiva (FOP) is a rare human genetic disease in which de novo osteogenesis-a developmental process occurring during embryonic skeletal formation-is induced aberrantly and progressively beginning during early childhood in soft connective tissues. Episodic initiation of spontaneous bone-forming lesions occurs over time, affecting a generally predictable sequence of body locations following a pattern similar to that of the developing embryonic skeleton. The heterotopic (extraskeletal) bone formation in FOP can also be induced by connective tissue injury. At the tissue level, an initial tissue degradation phase is followed by a tissue formation phase during which soft connective tissues are replaced by bone tissue through endochondral osteogenesis. This extraskeletal bone is physiologically normal and develops through the same series of tissue differentiation events that occur during normal embryonic skeletal development. The underlying genetic mutation in FOP alters the signals that regulate induction of cell differentiation leading to bone formation. In addition to postnatal heterotopic ossification, FOP patients show specific malformations of skeletal elements indicating effects on bone formation during embryonic development as well. Nearly all cases of FOP are caused by the identical mutation in the ACVR1 gene that causes a single amino acid substitution, R206H, in the bone morphogenetic protein (BMP) type I receptor ACVR1 (formerly known as ALK2). This mutation causes mild constitutive activation of the BMP signaling pathway and identifies ACVR1 as a key regulator of cell fate decisions and bone formation, providing opportunities to investigate previously unrecognized functions for this receptor during tissue development and homeostasis.Registry Number/Name of Substance EC 2-7-11-30 (ACVR1 protein, human). EC 2-7-11-30 (Activin Receptors, Type I).
机译：骨增生性纤维增生症（FOP）是一种罕见的人类遗传疾病，其中在软性结缔组织的童年早期就异常而逐步地诱导了新生骨形成-一种在胚胎骨骼形成过程中发生的发育过程。自发性骨形成病变的发作是随着时间的推移而发生的，它会以与正在发育的胚胎骨骼相似的模式影响通常可预测的身体位置序列。 FOP中的异位（骨骼外）骨骼形成也可以由结缔组织损伤引起。在组织水平上，最初的组织降解阶段之后是组织形成阶段，在此阶段，软性结缔组织通过软骨内成骨作用被骨组织替代。这种骨骼外骨骼在生理上是正常的，并且通过在正常胚胎骨骼发育过程中发生的一系列相同的组织分化事件而发育。 FOP中潜在的遗传突变会改变调节诱导细胞分化导致骨骼形成的信号。除了产后异位骨化外，FOP患者还表现出特定的骨骼元素畸形，这也说明了胚胎发育过程中对骨形成的影响。几乎所有FOP病例都是由ACVR1基因的相同突变引起的，该突变导致I型骨形态发生蛋白（BMP）受体ACVR1（以前称为ALK2）中的单个氨基酸取代R206H。这种突变引起BMP信号通路的轻度组成性激活，并将ACVR1鉴定为细胞命运决定和骨形成的关键调节剂，为研究该受体在组织发育和体内稳态过程中以前未被认识的功能提供了机会。注册号EC 2物质名称-7-11-30（ACVR1蛋白，人类）。 EC 2-7-11-30（激活素受体，I型）。

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