Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1
Clinical and molecular features and therapeutic perspectives of spinal muscular atrophy with respiratory distress type 1
复制标题
脊髓性肌萎缩伴呼吸窘迫1型的临床和分子特征及治疗前景
DOI：
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发表时间：
2015
影响因子：
5.3
通讯作者：
S. Corti
中科院分区：
文献类型：
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作者：
F. Vanoli;Paola Rinchetti;Francesca Porro;V. Parente;S. Corti
脊髓性肌萎缩伴呼吸窘迫（SMARD1）是一种常染色体隐性神经肌肉疾病，由编码免疫球蛋白μ结合蛋白2的IGHMBP2基因突变引起，导致运动神经元变性。这是一种罕见而致命的疾病，大多数病例在婴儿期早期发病。主要临床特征为肌萎缩和膈肌麻痹，需要及时和永久的支持性通气。人类疾病在神经肌肉变性（nmd）小鼠中重现。目前还没有有效的治疗方法，但在nmd小鼠上测试的新治疗方法，如使用神经营养因子和干细胞治疗，已经显示出积极的效果。基因治疗已证明对SMA有效，目前正处于患者临床试验阶段，因此也代表了对SMARD1的可能治疗。对SMARD1临床谱和分子机制的理解取得了重大进展，为人类临床前治疗策略的快速转化奠定了基础。
Spinal muscular atrophy with respiratory distress (SMARD1) is an autosomal recessive neuromuscular disease caused by mutations in the IGHMBP2 gene, encoding the immunoglobulin μ‐binding protein 2, leading to motor neuron degeneration. It is a rare and fatal disease with an early onset in infancy in the majority of the cases. The main clinical features are muscular atrophy and diaphragmatic palsy, which requires prompt and permanent supportive ventilation. The human disease is recapitulated in the neuromuscular degeneration (nmd) mouse. No effective treatment is available yet, but novel therapeutical approaches tested on the nmd mouse, such as the use of neurotrophic factors and stem cell therapy, have shown positive effects. Gene therapy demonstrated effectiveness in SMA, being now at the stage of clinical trial in patients and therefore representing a possible treatment for SMARD1 as well. The significant advancement in understanding of both SMARD1 clinical spectrum and molecular mechanisms makes ground for a rapid translation of pre‐clinical therapeutic strategies in humans.
影响因子：
9.8
作者：
Cottenie, Ellen;Kochanski, Andrzej;Houlden, Henry
通讯作者：
Houlden, Henry