Björkman Kristoffer, Sofou Kalliopi, Darin Niklas, Holme Elisabeth, Kollberg Gittan, Asin-Cayuela Jorge, Holmberg Dahle Karin M, Oldfors Anders, Moslemi Ali-Reza, Tulinius Már
Department of Pediatrics, University of Gothenburg, The Queen Silvia Children's Hospital, Gothenburg, Sweden.
Department of Clinical Chemistry, University of Gothenburg, Sahlgrenska University Hospital, Gothenburg, Sweden.
Mitochondrion. 2015 Mar;21:33-40. doi: 10.1016/j.mito.2015.01.003. Epub 2015 Jan 20.
We report clinical, metabolic, genetic and neuroradiological findings in five patients from three different families with isolated complex I deficiency. Genetic analysis revealed mutations in NDUFS1 in three patients and in NDUFV1 in two patients. Four of the mutations are novel and affect amino acid residues that either are invariant among species or conserved in their properties. The presented clinical courses are characterized by leukoencephalopathy or early death and expand the already heterogeneous phenotypic spectrum. A literature review was performed, showing that patients with mutations in NDUFS1 in general have a worse prognosis than patients with mutations in NDUFV1.
我们报告了来自三个不同家族的五名孤立性复合体I缺乏症患者的临床、代谢、遗传和神经放射学检查结果。基因分析显示，三名患者的NDUFS1基因发生突变，两名患者的NDUFV1基因发生突变。其中四个突变是新发现的，影响的氨基酸残基在物种间要么是不变的，要么在性质上是保守的。所呈现的临床病程以白质脑病或早期死亡为特征，扩大了本已异质性的表型谱。进行了文献综述，结果显示，一般而言，NDUFS1基因突变的患者比NDUFV1基因突变的患者预后更差。
