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Mitochondrial deoxyribonucleotide pools in deoxyguanosine kinase deficiency.

Abstract：

:Mutated deoxyguanosine kinase (dGK), which catalyses the first step of the mitochondrial deoxypurine salvage pathway, accounts for a hepatocerebral variant of mitochondrial DNA (mtDNA) depletion syndromes. In order to elucidate the pathogenic mechanism of dGK deficiency, mitochondrial and cytoplasmic deoxyribonucleoside triphosphate (dNTP) pools in cycling and quiescent fibroblasts from a dGK deficient patient were measured. The mitochondrial dNTP pools were found to be imbalanced, mainly in quiescent cells due to decreased dGTP while mtDNA content and mitochondrial respiratory chain activities were concomitantly decreased. Supplementation of deoxyguanosine and deoxyadenosine normalized mitochondrial dNTP pools, mtDNA content and partially restored the MRC function. It is suggested that the cytoplasmic deoxycytine kinase supplemented with external substrates may compensate for the deficient dGK.

journal_name

Mol Genet Metab

journal_title

Molecular genetics and metabolism

authors

Saada A

doi

10.1016/j.ymgme.2008.07.007

subject

Has Abstract

pub_date

2008-11-01 00:00:00

pages

169-73

issue

3

eissn

1096-7192

issn

1096-7206

pii

S1096-7192(08)00200-X

journal_volume

95

pub_type

杂志文章

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