Genetic aspects of congenital and idiopathic scoliosis.
Genetic aspects of congenital and idiopathic scoliosis.
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DOI：
10.6064/2012/152365
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发表时间：
2012
期刊：
影响因子：
3.2
通讯作者：
Giampietro PF
中科院分区：
文献类型：
--
作者：
Giampietro PF
先天性和特发性脊柱侧凸代表脊柱的残疾状况。虽然先天性脊柱侧凸（CS）是由椎骨发育的形态发生异常引起的，但特发性脊柱侧凸的原因可能是多种多样的，包括骨骼生长的改变、神经肌肉失衡、涉及大脑和脊柱之间沟通的障碍等。这两种情况的特点是表型和遗传异质性，这有助于在了解他们的遗传基础，研究人员面临的困难。尽管这两种情况之间存在差异，但观察和实验证据支持共同的遗传机制。本文重点介绍CS和IS的临床特征，并强调导致其发生的遗传和环境因素。预计新兴的遗传技术和两种疾病表型分层的改进将有助于更好地了解这些疾病的遗传基础，并实现有针对性的预防和治疗策略。
Congenital and idiopathic scoliosis represent disabling conditions of the spine. While congenital scoliosis (CS) is caused by morphogenic abnormalities in vertebral development, the cause(s) for idiopathic scoliosis is (are) likely to be varied, representing alterations in skeletal growth, neuromuscular imbalances, disturbances involving communication between the brain and spine, and others. Both conditions are characterized by phenotypic and genetic heterogeneities, which contribute to the difficulties in understanding their genetic basis that investigators face. Despite the differences between these two conditions there is observational and experimental evidence supporting common genetic mechanisms. This paper focuses on the clinical features of both CS and IS and highlights genetic and environmental factors which contribute to their occurrence. It is anticipated that emerging genetic technologies and improvements in phenotypic stratification of both conditions will facilitate improved understanding of the genetic basis for these conditions and enable targeted prevention and treatment strategies.