Nier V, Schultz I, Brenner B, Forssmann W, Raida M
Molekular- und Zellphysiologie, Medizinische Hochschule Hannover, D-30625, Hannover, Germany.
FEBS Lett. 1999 Nov 19;461(3):246-52. doi: 10.1016/s0014-5793(99)01433-7.
The ratio of mutant to wildtype myosin heavy chain (beta-isoform, beta-MHC) in the soleus muscle of patients with familial hypertrophic cardiomyopathy was determined by a combination of HPLC, mass spectrometry and capillary zone electrophoresis. In two patients, one with a Val 606 Met mutation and another with a Gly 584 Arg mutation, the fraction of mutant beta-MHC was only 12+/-6% and 23+/-0.7% of total beta-MHC, respectively. These results demonstrate the necessity to determine the ratio of mutant to wildtype protein for the interpretation of functional studies on biopsy material from heterozygous patients with an inherited disease.
通过高效液相色谱、质谱分析和毛细管区带电泳相结合的方法，测定了家族性肥厚型心肌病患者比目鱼肌中突变型与野生型肌球蛋白重链（β同工型，β-MHC）的比例。在两名患者中，一名携带Val 606 Met突变，另一名携带Gly 584 Arg突变，突变型β-MHC的比例分别仅占总β-MHC的12±6%和23±0.7%。这些结果表明，对于解释来自患有遗传性疾病的杂合子患者活检材料的功能研究，有必要确定突变型与野生型蛋白质的比例。
