BACKGROUND: Mitochondrial disorders may affect basal ganglia function. In addition, decreased activity of complex I of the mitochondrial electron transport chain has been linked to the pathogenesis of dopaminergic cell loss in Parkinson's disease. Objective : To investigate the dopaminergic system in patients with known mitochondrial disorders and complex I deficiency. METHODS: Dopamine transporter density was studied in 10 female patients with mitochondrial complex I deficiency by (123)I-FP-CIT (N-beta-fluoropropyl-2beta-carbomethyl-3beta-(4-iodophenyl)-nortropane) SPECT. RESULTS: No differences in (123)I-FP-CIT striatal binding ratios were observed and no correlation of the degree of complex I deficiency and striatal binding ratios could be detected. CONCLUSIONS: These data argue against the possibility that mitochondrial complex I deficiency by itself is sufficient to elicit dopaminergic cell loss.
BACKGROUND:Mitochondrial disorders may affect basal ganglia function. In addition, decreased activity of complex I of the mitochondrial electron transport chain has been linked to the pathogenesis of dopaminergic cell loss in Parkinson's disease. Objective : To investigate the dopaminergic system in patients with known mitochondrial disorders and complex I deficiency. METHODS:Dopamine transporter density was studied in 10 female patients with mitochondrial complex I deficiency by (123)I-FP-CIT (N-beta-fluoropropyl-2beta-carbomethyl-3beta-(4-iodophenyl)-nortropane) SPECT. RESULTS: No differences in (123)I-FP-CIT striatal binding ratios were observed and no correlation of the degree of complex I deficiency and striatal binding ratios could be detected. CONCLUSIONS: These data argue against the possibility that mitochondrial complex I deficiency by itself is sufficient to elicit dopaminergic cell loss.
Authors: Dimitri M Hemelsoet; Arnaud V Vanlander; Joél Smet; Elise Vantroys; Marjan Acou; Ingeborg Goethals; Tom Sante; Sara Seneca; Bjorn Menten; Rudy Van Coster Journal: Neurol Genet Date: 2018-11-27