Robinson A
CMAJ. 1995 Nov 15;153(10):1459-62.
A gene involved in the development of spinal muscular atrophy (SMA) has been found on human chromosome 5 after a 4-year search. Named the neuronal apoptosis inhibitor protein (NAIP) gene, it is believed to inhibit the normal process of apoptosis--the disintegration of single cells that results from programmed cell death--in motor neurons. The researchers who found the NAIP gene also discovered that healthy people carry one complete copy of the gene along with many other partial copies. Many children with SMA have the partial copies but not the complete gene. This discovery facilitates the accurate genetic diagnosis of SMA. But gene therapy for SMA will not be possible until researchers find a suitable vector to stably introduce activated and intact copies of the gene into the motor neurons of children with SMA in time to stop motor neuron loss.
经过4年的探寻，人们在人类5号染色体上发现了一个与脊髓性肌萎缩症（SMA）发展相关的基因。该基因名为神经元凋亡抑制蛋白（NAIP）基因，据信它能抑制运动神经元中正常的凋亡过程——即由程序性细胞死亡导致的单细胞解体。发现NAIP基因的研究人员还发现，健康人携带该基因的一个完整拷贝以及许多其他部分拷贝。许多患有SMA的儿童只有部分拷贝而没有完整基因。这一发现有助于对SMA进行准确的基因诊断。但在研究人员找到一种合适的载体，能够及时将激活的完整基因拷贝稳定地导入SMA患儿的运动神经元以阻止运动神经元丧失之前，SMA的基因治疗尚无法实现。
