Oral Coenzyme Q10 supplementation leads to better preservation of kidney function in steroid-resistant nephrotic syndrome due to primary Coenzyme Q10 deficiency

Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy

“…The impact of clinical management, in particular oral CoQ10 supplementation, on proteinuria and kidney survival is beyond the scope of this article and will be discussed in a separate publication. 19 In the present study, we focused on the potential role of genetic determinants of the observed remarkable phenotypic variability of primary CoQ10 deficiency. We identified a number of sequence variants with divergent clinical presentations.…”

Gene therapy for mitochondrial disorders

“…A few disorders respond positively to specific vitamins or co-factors including SLC19A3 deficiency which responds to biotin and thiamine supplementation, 19 ACAD9, FLAD1 and riboflavin transporter deficiencies which respond to riboflavin 20,21 and COQ2, COQ6 and COQ8B deficiency have responded to high-dose coenzyme CoQ 10 (CoQ 10 ) supplementation. 22 In addition, several experimental small-molecule therapies are being trialled in patients with PMDs, although none of these address the primary genetic cause. Of these, only idebenone, a redox modulator and CoQ 10 analogue, has been approved in Europe for Leber Hereditary Optic Neuropathy (LHON) 23 and omaveloxolone (Skyclarys), which acts through a combination of activation of Nrf2 and inhibition of NF-κB, has recently received FDA approval for Friedreich Ataxia.…”

“…Presently, there are no approved disease modifying treatments for most PMDs. A few disorders respond positively to specific vitamins or co‐factors including SLC19A3 deficiency which responds to biotin and thiamine supplementation, 19 ACAD9, FLAD1 and riboflavin transporter deficiencies which respond to riboflavin 20,21 and COQ2, COQ6 and COQ8B deficiency have responded to high‐dose coenzyme CoQ 10 (CoQ 10 ) supplementation 22 . In addition, several experimental small‐molecule therapies are being trialled in patients with PMDs, although none of these address the primary genetic cause.…”

Patogênese genética-molecular da síndrome nefrótica córtico-resistente, síndrome nefrótica congênita e glomeruloesclerose segmentar e focal: realidade e contribuições da análise de uma população pediátrica brasileira

“…Variantes patogênicas em COQ2 foram associadas a um amplo espectro de acometimento neurológico e/ou renal175 . Há descrição de que a reposição de CoQ10 iniciada imediatamente após identificação de proteinúria em criança com variantes patogênicas nesse locus e função renal normal reduziu a proteinúria93,176 . No nosso caso, é possível que o tipo de mutação e/ou o momento da introdução da reposição de CoQ10 -quando a doença renal já se apresentava em estágio avançadotenham sido determinantes na ausência resposta.…”

“…No nosso caso, é possível que o tipo de mutação e/ou o momento da introdução da reposição de CoQ10 -quando a doença renal já se apresentava em estágio avançadotenham sido determinantes na ausência resposta. Vale dizer que suplementação oral de CoQ10 não se correlacionou com melhora significativa dos sintomas neurológicos em pacientes com mutações em COQ2176 .…”