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2018 ; 39
(3
): 406-414
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English Wikipedia
Mutations in COQ8B (ADCK4) found in patients with steroid-resistant nephrotic
syndrome alter COQ8B function
#MMPMID29194833
Vazquez Fonseca L
; Doimo M
; Calderan C
; Desbats MA
; Acosta MJ
; Cerqua C
; Cassina M
; Ashraf S
; Hildebrandt F
; Sartori G
; Navas P
; Trevisson E
; Salviati L
Hum Mutat
2018[Mar]; 39
(3
): 406-414
PMID29194833
show ga
Mutations in COQ8B cause steroid-resistant nephrotic syndrome with variable
neurological involvement. In yeast, COQ8 encodes a protein required for coenzyme
Q (CoQ) biosynthesis, whose precise role is not clear. Humans harbor two paralog
genes: COQ8A and COQ8B (previously termed ADCK3 and ADCK4). We have found that
COQ8B is a mitochondrial matrix protein peripherally associated with the inner
membrane. COQ8B can complement a ?COQ8 yeast strain when its mitochondrial
targeting sequence (MTS) is replaced by a yeast MTS. This model was employed to
validate COQ8B mutations, and to establish genotype-phenotype correlations. All
mutations affected respiratory growth, but there was no correlation between
mutation type and the severity of the phenotype. In fact, contrary to the case of
COQ2, where residual CoQ biosynthesis correlates with clinical severity, patients
harboring hypomorphic COQ8B alleles did not display a different phenotype
compared with those with null mutations. These data also suggest that the system
is redundant, and that other proteins (probably COQ8A) may partially compensate
for the absence of COQ8B. Finally, a COQ8B polymorphism, present in 50% of the
European population (NM_024876.3:c.521A > G, p.His174Arg), affects stability of
the protein and could represent a risk factor for secondary CoQ deficiencies or
for other complex traits.
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