Bertagnolio B, Uziel G, Bottachi E, Crenna G, D'Angelo A, Di Donato S
Can J Neurol Sci. 1980 Nov;7(4):409-12. doi: 10.1017/s0317167100022964.
Pyruvate and palmitate oxidations by cultured fibroblasts suspensions were measured in optimized conditions and proved to be within normal range in the cells from Friedreich's patients. However, when pyruvate oxidation was measured by direct assay of the pyruvate dehydrogenase complex, this enzyme activity proved to be significantly lower in Friedreich's than in controls' cells. These abnormalities were not observed when the cells were sonicated. Moreover, lipoamide dehydrogenase activity. Km and Vmax were within the normal range in Friedreich's cells. These data suggest that the low activities of the PDH complex are not a primary defect in Friedreich's ataxia, but are more likely related to membrane abnormalities in Friedreich's cells.
在优化条件下测定了培养的成纤维细胞悬液中丙酮酸和棕榈酸的氧化情况，结果表明弗里德赖希氏病患者细胞中的这些氧化过程处于正常范围内。然而，当通过直接检测丙酮酸脱氢酶复合物来测定丙酮酸氧化时，结果显示弗里德赖希氏病患者细胞中该酶的活性明显低于对照组细胞。当细胞进行超声处理时，未观察到这些异常情况。此外，弗里德赖希氏病患者细胞中的硫辛酰胺脱氢酶活性、米氏常数（Km）和最大反应速度（Vmax）均在正常范围内。这些数据表明，丙酮酸脱氢酶复合物活性降低并非弗里德赖希共济失调的原发性缺陷，而更可能与弗里德赖希氏病患者细胞中的膜异常有关。
