Koroshetz W J, Jenkins B G, Rosen B R, Beal M F
Neurology Service, Massachusetts General Hospital and Harvard Medical School, Boston 02114, USA.
Ann Neurol. 1997 Feb;41(2):160-5. doi: 10.1002/ana.410410206.
We investigated whether the Huntington's disease (HD) gene mutation may produce either primary or secondary effects on energy metabolism. 31P magnetic resonance spectroscopy demonstrated a significant decrease in the phosphocreatine to inorganic phosphate ratio in resting muscle of 8 patients as compared with 8 control subjects. The cerebrospinal fluid lactate-pyruvate ratio was significantly increased in 15 patients as compared with 13 control subjects. Lactate concentrations assessed using 1H magnetic resonance spectroscopy are increased in Huntington's disease cerebral cortex. Treatment with coenzyme Q10, an essential cofactor of the electron transport chain, resulted in significant decreases in cortical lactate concentrations in 18 patients, which reversed following withdrawal of therapy. These findings provide evidence for a generalized energy defect in Huntington's disease, and suggest a possible therapy.
我们研究了亨廷顿舞蹈症（HD）基因突变是否会对能量代谢产生原发性或继发性影响。与8名对照受试者相比，31P磁共振波谱显示8例患者静息肌肉中的磷酸肌酸与无机磷酸盐的比率显著降低。与13名对照受试者相比，15例患者的脑脊液乳酸-丙酮酸比率显著升高。使用1H磁共振波谱评估的亨廷顿舞蹈症大脑皮质中的乳酸浓度升高。用电子传递链的必需辅助因子辅酶Q10进行治疗，使18例患者的皮质乳酸浓度显著降低，停药后该效果逆转。这些发现为亨廷顿舞蹈症存在全身性能量缺陷提供了证据，并提示了一种可能的治疗方法。
