Department of Biochemistry, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC, USA.
Eur J Neurosci. 2010 Aug;32(4):560-9. doi: 10.1111/j.1460-9568.2010.07326.x. Epub 2010 Jul 16.
The NIPSNAP (4-nitrophenylphosphatase domain and non-neuronal SNAP25-like protein homolog 1) proteins belong to a highly conserved family of proteins of unknown function. We found that NIPSNAP1 binds to the branched-chain alpha-keto acid (BCKA) dehydrogenase enzyme complex, which is disrupted in maple syrup urine disease, a disease of branched-chain amino acid catabolism that results in neurological dysfunction. Phenylketonuric (PKU) and epileptic mice show altered expression of NIPSNAP1 in the brain. Therefore, the distribution and localization of NIPSNAP1 in rat brain was determined. Results show that NIPSNAP1 is expressed exclusively in neurons including pyramidal neurons in the cerebral cortex, Purkinje neurons in the cerebellum and motor neurons in the spinal cord. Dopaminergic neurons in midbrain and noradrenergic neurons in the brainstem, which are affected in PKU, also express NIPSNAP1. NIPSNAP1 is found to be localized in the mitochondrial matrix and can bind dihydrolipoyl-transacylase and -transacetylase components of the BCKA and pyruvate dehydrogenase complexes in vitro. Our data provide the first experimental evidence for a strictly neuronal expression of this mitochondrial protein in the rat nervous system.
NIPSNAP(4-硝基苯磷酸酶结构域和非神经元 SNAP25 样蛋白同源物 1)蛋白属于一个高度保守的未知功能蛋白家族。我们发现 NIPSNAP1 与支链α-酮酸(BCKA)脱氢酶复合物结合,而这种复合物在枫糖尿症中被破坏,枫糖尿症是一种支链氨基酸代谢紊乱的疾病,会导致神经功能障碍。苯丙酮尿症(PKU)和癫痫小鼠的大脑中 NIPSNAP1 的表达发生改变。因此,确定了 NIPSNAP1 在大鼠脑中的分布和定位。结果表明,NIPSNAP1 仅在神经元中表达,包括大脑皮层的锥体细胞、小脑的浦肯野细胞和脊髓的运动神经元。中脑的多巴胺能神经元和脑桥的去甲肾上腺素能神经元在 PKU 中也表达 NIPSNAP1。研究发现,NIPSNAP1 定位于线粒体基质中,并且可以在体外与 BCKA 和丙酮酸脱氢酶复合物的二氢乳酰转酰基酶和转乙酰基酶成分结合。我们的数据为该线粒体蛋白在大鼠神经系统中的严格神经元表达提供了第一个实验证据。