Graw J, Reitmeir P, Wulff A
GSF-Institut für Säugetiergenetik, Neuherberg, Federal Republic of Germany.
Graefes Arch Clin Exp Ophthalmol. 1990;228(3):252-4. doi: 10.1007/BF00920030.
Three newly detected dominant cataract mutations (Asc-1, Cat-3vao, Tcm) were investigated for effects on osmotic alterations in the lenses of heterozygotes. The lens wet weight was reduced in two mutant lines (Cat-3vao and Tcm), and the water content in the lenses of the Cat-3vao mice was increased. Moreover, in the cataractous lenses from Cat-3vao mice, the sodium-potassium-adenosine triphosphatase (Na(+)-K(+)-ATPase) activity was enhanced and the ATP concentration, correspondingly decreased. The osmotic variations observed in the Cat-3vao mutants might have been due to a metabolic response to the yet unknown, primary pathological event. The lenses of the other two mutant lines (Asc-1 and Tcm) revealed no alterations that could be related to osmotic stress. In no mutant line investigated could a decrease in Na(+)-K(+)-ATPase activity be demonstrated that was similar to the causative factor in the Nakano mutant line. The Cat-3vao mice exhibited some similarities to the Philly mutant line.
研究了三个新检测到的显性白内障突变(Asc-1、Cat-3vao、Tcm)对杂合子晶状体渗透压改变的影响。两个突变系(Cat-3vao和Tcm)的晶状体湿重降低,Cat-3vao小鼠晶状体中的含水量增加。此外,在Cat-3vao小鼠的白内障晶状体中,钠钾腺苷三磷酸酶(Na(+)-K(+)-ATPase)活性增强,而ATP浓度相应降低。在Cat-3vao突变体中观察到的渗透压变化可能是对尚不清楚的原发性病理事件的代谢反应。其他两个突变系(Asc-1和Tcm)的晶状体未显示出与渗透压应激相关的改变。在所研究的任何突变系中,均未证明Na(+)-K(+)-ATPase活性降低,而这种降低与中野突变系中的致病因素相似。Cat-3vao小鼠与Philly突变系表现出一些相似之处。