Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Coenzyme Q2 4-hydroxybenzoat Polyprenyltransferase

Das COQ2-Gen kodiert ein mitochondriales Enzym des Ubichinon-10 (Coenzym-10) Stoffwechsels. Mutationen sind sind für den autosomal rezessiven primärer Coenzym Q10-Mangel 1 verantwortlich, eine zerebromuskuläre Erkrankung.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Coenzym Q10-Mangel 1
COQ2

Referenzen:

1.

Quinzii CM et al. (2010) Reactive oxygen species, oxidative stress, and cell death correlate with level of CoQ10 deficiency.

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2.

Mollet J et al. (2007) Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders.

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3.

Forsgren M et al. (2004) Isolation and functional expression of human COQ2, a gene encoding a polyprenyl transferase involved in the synthesis of CoQ.

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4.

Salviati L et al. (2005) Infantile encephalomyopathy and nephropathy with CoQ10 deficiency: a CoQ10-responsive condition.

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5.

Quinzii C et al. (2006) A mutation in para-hydroxybenzoate-polyprenyl transferase (COQ2) causes primary coenzyme Q10 deficiency.

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6.

López-Martín JM et al. (2007) Missense mutation of the COQ2 gene causes defects of bioenergetics and de novo pyrimidine synthesis.

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7.

Hara K et al. (2007) Multiplex families with multiple system atrophy.

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8.

Diomedi-Camassei F et al. (2007) COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.

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9.

et al. (2013) Mutations in COQ2 in familial and sporadic multiple-system atrophy.

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