Cortelli P, Montagna P, Avoni P, Sangiorgi S, Bresolin N, Moggio M, Zaniol P, Mantovani V, Barboni P, Barbiroli B
Neurological Institute, University of Bologna, Italy.
Neurology. 1991 Aug;41(8):1211-5. doi: 10.1212/wnl.41.8.1211.
Three siblings of a family affected with Leber's hereditary optic neuropathy (LHON) showed a mitochondrial DNA mutation at position 11778. The lactate response to a standardized effort was increased in only one case. Muscle biopsies and biochemistry of muscle and platelet mitochondrial enzymes were normal. All patients showed an altered energy metabolism during exercise and during recovery after exercise on phosphorus 31-magnetic resonance spectroscopy (31P-MRS) of muscle. Brain 31P-MRS showed a decreased energy reserve (decreased PCr/Pi ratio) in all patients. 31P-MRS noninvasively demonstrated an altered mitochondrial energy metabolism in muscle and, for the first time, in the brains of LHON patients.
一个患有Leber遗传性视神经病变（LHON）的家庭中的三名兄弟姐妹在11778位点出现线粒体DNA突变。仅在1例中，标准化运动后的乳酸反应有所增加。肌肉活检以及肌肉和血小板线粒体酶的生化指标均正常。在对肌肉进行磷31磁共振波谱（31P-MRS）检查时，所有患者在运动期间及运动后恢复过程中均显示能量代谢改变。脑部31P-MRS显示所有患者的能量储备减少（磷酸肌酸/无机磷比值降低）。31P-MRS首次无创地证明了LHON患者肌肉以及脑部的线粒体能量代谢发生改变。
