Waterham Hans R, Koster Janet, van Roermund Carlo W T, Mooyer Petra A W, Wanders Ronald J A, Leonard James V
Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands.
N Engl J Med. 2007 Apr 26;356(17):1736-41. doi: 10.1056/NEJMoa064436.
We report on a newborn girl with microcephaly, abnormal brain development, optic atrophy and hypoplasia, persistent lactic acidemia, and a mildly elevated plasma concentration of very-long-chain fatty acids. We found a defect of the fission of both mitochondria and peroxisomes, as well as a heterozygous, dominant-negative mutation in the dynamin-like protein 1 gene (DLP1). The DLP1 protein has previously been implicated, in vitro, in the fission of both these organelles. Overexpression of the mutant DLP1 in control cells reproduced the fission defect. Our findings are representative of a class of disease characterized by defects in both mitochondria and peroxisomes.
我们报告了一名患有小头畸形、脑发育异常、视神经萎缩和发育不全、持续性乳酸性血症以及血浆超长链脂肪酸浓度轻度升高的新生女婴。我们发现线粒体和过氧化物酶体的分裂均存在缺陷,以及动力蛋白样蛋白1基因(DLP1)中的杂合显性负性突变。DLP1蛋白此前在体外实验中已被证明与这两种细胞器的分裂有关。在对照细胞中过表达突变型DLP1可重现分裂缺陷。我们的发现代表了一类以线粒体和过氧化物酶体均存在缺陷为特征的疾病。