Aït-Ikhlef A, Murawsky M, Blondet B, Hantaz-Ambroise D, Martinou J C, Rieger F
INSERM U153, Paris, France.
Neurosci Lett. 1995 Oct 27;199(3):163-6. doi: 10.1016/0304-3940(95)12061-8.
The wobbler mouse mutation, an autosomal recessive mutation, leads to motoneuron degeneration in early post-natal development. Transgenic mice in which neurons overexpress human bcl2 transgene have been generated: the overexpression of bcl2 reduces the neuron loss during naturally occurring and experimentally-induced cell deaths. In the present study, we generate mice co-expressing the wobbler mutant gene and the bcl2 transgene in order to determine the effects of Bcl2 overexpression on the neurodegenerative disorders of the wobbler mouse. The clinical signs of the disease (weakness, tremor, small size) as well as biochemical and histological parameters (choline acetyltransferase (ChAT) activity in muscles, gliosis in spinal cord) are similar in bcl2 positive and negative wobbler mice. These results point to the fact that the neuron-specific expression of the human bcl2 transgene does not correct the effects of the wobbler mutation.
摇摆小鼠突变是一种常染色体隐性突变，会导致出生后早期发育阶段的运动神经元退化。已经培育出神经元过度表达人bcl2转基因的转基因小鼠：bcl2的过度表达减少了自然发生的和实验诱导的细胞死亡过程中的神经元损失。在本研究中，我们培育了同时表达摇摆突变基因和bcl2转基因的小鼠，以确定bcl2过度表达对摇摆小鼠神经退行性疾病的影响。bcl2阳性和阴性摇摆小鼠的疾病临床症状（虚弱、震颤、体型小）以及生化和组织学参数（肌肉中的胆碱乙酰转移酶（ChAT）活性、脊髓中的胶质细胞增生）相似。这些结果表明，人bcl2转基因的神经元特异性表达并不能纠正摇摆突变的影响。
