Motley A M, Tabak H F, Smeitink J A, Poll-The B T, Barth P G, Wanders R J
Department of Biochemistry, E.C. Slater Institute, Academic Medical Center, Amsterdam, The Netherlands.
Biochim Biophys Acta. 1996 Apr 12;1315(3):153-8. doi: 10.1016/0925-4439(95)00114-x.
Several patients have been described recently who suffer from a non-rhizomelic type of chondrodysplasia punctata (CDP), but who show all the biochemical abnormalities characteristic of the rhizomelic form of chondrodysplasia punctata (RCDP), a peroxisomal disorder. We have used protease protection experiments and microinjection of reporter-protein-encoding expression plasmids to show that peroxisomal thiolase fails to be imported into peroxisomes in cells from non-rhizomelic CDP patients, as has already been found in cells from classical RCDP patients. Furthermore, complementation analysis after somatic cell fusion indicates that the non-rhizomelic CDP patients are impaired in the same gene as classical RCDP patients. We conclude that defects in a single gene can give rise to both clinical phenotypes.
最近描述了几位患有非肢根型点状软骨发育不良（CDP）的患者，但他们表现出肢根型点状软骨发育不良（RCDP，一种过氧化物酶体疾病）的所有特征性生化异常。我们通过蛋白酶保护实验和报告蛋白编码表达质粒的显微注射表明，非肢根型CDP患者细胞中的过氧化物酶体硫解酶无法导入过氧化物酶体，这与经典RCDP患者细胞中的情况相同。此外，体细胞融合后的互补分析表明，非肢根型CDP患者与经典RCDP患者的同一个基因存在缺陷。我们得出结论，单个基因的缺陷可导致两种临床表型。
