Udruženost polimorfizama gena za katehol-O-metiltransferazu sa terapijskim odgovorom i komplikacijama izazvanim levodopom kod Parkinsonove bolesti: Rezime sadašnjih saznanja

  • Branislava Radojević Kliničko bolnički centar Zvezdara, Kliničko odeljenje za neurologiju
  • Ivan Jančić Univerzitet u Beogradu – Farmaceutski fakultet, Katedra za mikrobiologiju i imunologiju
  • Miroslav Savić Univerzitet u Beogradu – Farmaceutski fakultet, Katedra za farmakologiju
  • Nataša Dragašević-Mišković Univerzitet u Beogradu - Medicinski fakultet, Klinika za neurologiju
  • Vladimir Kostić Univerzitet u Beogradu - Medicinski fakultet, Klinika za neurologiju
DOI: https://doi.org/10.5937/arhfarm74-45472
Ključne reči: Parkinsonova bolest, levodopa indukovane diskinezije, halucinacije, COMT gen, jednonukleotidni polimorfizmi, Val158Met (rs4680)

Sažetak


Katehol-O-metiltransferaza (engl. catechol-O-methyltransferase, COMT) je jedan od glavnih enzima u razgradnji kateholamina i levodope. Genetske varijante COMT gena mogu uticati na aktivnost COMT enzima. Polimorfizam COMT gena koji je najviše proučavan je nesinonimni jednonukleotidni polimorfizam (engl. single nucleotide polymorphism, SNP) u egzonu 4 (Val108/158Met; rs4680). Ovaj visoko funkcionalni polimorfizam odgovoran je za četvorostruke varijacije u aktivnosti enzima i katabolizmu dopamina. Nedavni podaci sugerišu da čak i sinonimni SNP COMT gena mogu da dovedu do promena u aktivnosti enzima. Genetski određene razlike u COMT aktivnosti mogu uticati na odgovor pojedinca na terapiju levodopom i nose rizik od komplikacija dugotrajne primene levodope kod pacijenata sa Parkinsonovom bolešću (PB). Identifikacija osoba u riziku putem markera genetske osetljivosti može pomoći u prevenciji komplikacija izazvanih levodopom kod PB.

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Objavljeno
2024/02/22
Broj časopisa
Vol. 74 Br. Notebook 1 (2024): Arhiv za farmaciju
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Pregledni (Revijalni) rad
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