Department of Biological Sciences, 202 Life Sciences Building, Louisiana State University, Baton Rouge, LA 70803, USA.
Mitochondrion. 2011 May;11(3):397-404. doi: 10.1016/j.mito.2010.12.001. Epub 2010 Dec 16.
Delta-1-pyrroline-5-carboxylate dehydrogenase (P5CDh) is a nuclear-encoded mitochondrial enzyme that catalyzes the second step in proline degradation. Mutations in human P5CDh cause type II hyperprolinemia, a complex syndrome displaying increased serum proline and mental disabilities. Conceptual gene CG7145 in Drosophila melanogaster encodes the orthologous DmP5CDh1. The mutant allele CG7145(f04633) contains a piggyBac transposon that truncates the enzyme by 83 residues. Heterozygous (CG7145(f04633)/TM3) individuals developed normally, while homozygous (CG7145(f04633)/CG7145(f04633)) individuals displayed proline levels twice that of normal, swollen mitochondria, and ultimately larval and pupal lethality. We believe this is the first correlation between the loss of P5CDh and morphological defects in mitochondria.
δ-1-吡咯啉-5-羧酸脱氢酶（P5CDh）是一种核编码的线粒体酶，催化脯氨酸降解的第二步。人类 P5CDh 的突变导致 II 型高脯氨酸血症，这是一种表现为血清脯氨酸升高和智力障碍的复杂综合征。果蝇中的同源基因 CG7145 编码 DmP5CDh1。突变等位基因 CG7145(f04633)含有一个 piggyBac 转座子，该转座子通过截断酶 83 个残基。杂合子（CG7145(f04633)/TM3）个体正常发育，而纯合子（CG7145(f04633)/CG7145(f04633)）个体的脯氨酸水平是正常的两倍，线粒体肿胀，并最终导致幼虫和蛹死亡。我们认为这是 P5CDh 缺失与线粒体形态缺陷之间的首次相关性。
