Lodi R, Rinaldi R, Gaddi A, Iotti S, D'Alessandro R, Scoz N, Battino M, Carelli V, Azzimondi G, Zaniol P, Barbiroli B
Cattedra di Biochimica Clinica, Dipartimento di Medicina Clinica e Biotecnologia Applicata D Campanacci, Università di Bologna, Italy.
J Neurol Neurosurg Psychiatry. 1997 Jun;62(6):574-80. doi: 10.1136/jnnp.62.6.574.
To determine whether a multisystemic bioenergetic deficit is an underlying feature of familial hypobetalipoproteinaemia.
Brain and skeletal muscle bioenergetics were studied by in vivo phosphorus MR spectroscopy (31P-MRS) in two neurologically affected members (mother and son) and in one asymptomatic member (daughter) of a kindred with familial hypobetalipoproteinaemia. Plasma concentrations of vitamin E and coenzyme Q10 (CoQ10) were also assessed.
Brain 31P-MRS disclosed in all patients a reduced phosphocreatine (PCr) concentration whereas the calculated ADP concentration was increased. Brain phosphorylation potential was reduced in the members by about 40%. Skeletal muscle was studied at rest in the three members and during aerobic exercise and recovery in the son and daughter. Only the mother showed an impaired mitochondrial function at rest. Both son and daughter showed an increased end exercise ADP concentration whereas the rates of postexercise recovery of PCr and ADP were slow in the daughter. The rate of inorganic phosphate recovery was reduced in both cases. Plasma concentration of vitamin E and CoQ10 was below the normal range in all members.
Structural changes in mitochondrial membranes and deficit of vitamin E together with reduced availability of CoQ10 can be responsible for the multisystemic bioenergetic deficit. Present findings suggest that CoQ10 supplementation may be important in familial hypobetalipoproteinaemia.
确定多系统生物能量缺乏是否为家族性低β脂蛋白血症的潜在特征。
采用活体磷磁共振波谱法（31P-MRS）对一个患有家族性低β脂蛋白血症家族中的两名有神经功能障碍的成员（母亲和儿子）以及一名无症状成员（女儿）的脑和骨骼肌生物能量进行研究。同时评估血浆维生素E和辅酶Q10（CoQ10）的浓度。
所有患者的脑31P-MRS显示磷酸肌酸（PCr）浓度降低，而计算得出的ADP浓度升高。这些成员的脑磷酸化电位降低了约40%。对三名成员的骨骼肌进行了静息状态下的研究，并对儿子和女儿进行了有氧运动及恢复过程中的研究。只有母亲在静息状态下显示线粒体功能受损。儿子和女儿在运动结束时的ADP浓度均升高，而女儿运动后PCr和ADP的恢复速率较慢。两种情况下无机磷酸盐的恢复速率均降低。所有成员的血浆维生素E和CoQ10浓度均低于正常范围。
线粒体膜的结构变化、维生素E缺乏以及CoQ10可用性降低可能是多系统生物能量缺乏的原因。目前的研究结果表明，补充CoQ10在家族性低β脂蛋白血症中可能很重要。
