Objective: To investigate CoQ10 levels through skin fibroblasts in patients with suspected ataxia related to CoQ10 deficiency.

Background: CoQ10 deficiency may cause complex forms of early onset cerebellar ataxia. This is a treatable condition and early diagnosis is mandatory. Biochemical investigation of CoQ10 levels may be obtained through skin fibroblasts.

Methods: Twenty seven patients with suspected CoQ10 deficiency with variable phenotypes between 0 and 17 years of age were evaluated. From this sample, 17 patients that had an early onset undetermined cerebellar ataxia and clinical suspicion of CoQ10 deficiency were selected and evaluated. Eleven healthy subjects were used as the control group. CoQ10 levels from fibroblasts in patients and controls were measured by HPLC/ECD. Biochemical access to mitochondrial respiratory complexes were measured by spectrophotometry. Mitochondrial oxidative stress was measured by superoxide anion labelling. Figure 1: Percentage of analysed patients according to the main clinical phenotypes related to CoQ10 deficiency. (n = 27)

Results: Considering the sample with ataxia, a total of 4 out of the 17 patients showed CoQ10 deficiency [figure 2]. The CoQ10 patients showed variable mitochondrial complexes activities. A total of 11 patients had clinical improvement after oral CoQ10 supplementation. Nevertheless, 3 of them had CoQ10 deficiency. From the 4 patients with early onset ataxia and CoQ10 deficiency, 3 had improvement of neurological symptoms after oral CoQ10 supplementation. Figure 2: (A) Skin fibroblasts from controls (n = 11) and patients (n = 27) were cultivated in glucose medium and collected to determine cellular CoQ10 by EQ-HPLC. Results are expressed as mean ± SD of three experiments. (B) Cellular CoQ10 content from patients with CoQ10 deficiency expressed in percentage of controls (n = 11). Levels of significance: *p < 0.05; **p < 0.01; ***p <0.001.

Conclusions: Early onset undetermined ataxia may be caused by CoQ10 deficiency. This is a treatable condition and early diagnosis is crucial. Biochemical investigation of CoQ10 levels must be performed in early onset undetermined cerebellar ataxia. Oral CoQ10 supplementation may improve neurological symptoms. References: Emmanuele V, López LC, Berardo A, Naini A, Tadesse S, Wen B, et al. Heterogeneity of coenzyme Q10 deficiency: patient study and literature review. Arch Neurol. 2012; 7:886.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/biochemical-evaluation-in-patients-with-suspected-ataxia-related-to-coq10-deficiency/