Konsekwencje polimorfizmu rs6265 (Val66Met) genu BDNF w wybranych zaburzeniachpsychicznych i sporcie
DOI:
https://doi.org/10.2478/cpp-2022-0003Słowa kluczowe:
BDNF, depresja, sport, uzależnienia, polimorfizmAbstrakt
Wstęp. Neurotroficzny czynnik pochodzenia mózgowego (BDNF) jest polipeptydem składającym się z 247 reszt aminokwasowych i jest szeroko rozpowszechniony w ośrodkowym układzie nerwowym (OUN) . Odgrywa ważną rolę w przeżyciu, różnicowaniu, wzroście i rozwoju neuronów w ośrodkowym układzie nerwowym człowieka. Ludzki gen BDNF znajduje się na chromosomie 11 w regionie p13-14 i obejmuje około 70 kb. Gen ma złożoną strukturę, ponieważ składa się z 11 eksonów (I-IX oraz Vh i VIIIh) i dziewięciu funkcjonalnych promotorów. Ekspresja BDNF w mózgu jest stosunkowo niska, ale występuje w większości głównych obszarów mózgu.
Materiał i metody. Gen kodujący neurotroficzny czynnik pochodzenia mózgowego BDNF ma wiele polimorfizmów, ale jeden z nich przede wszystkim przyciąga uwagę badaczy. Jest to powszechny, niekonserwatywny polimorfizm – rs6265 – polimorfizm pojedynczego nukleotydu SNP, który powoduje zmianę aminokwasu – waliny (Val) na metioninę (Met) – w kodonie 66.
Dyskusja. Polimorfizm rs6265 związany jest z wieloma zaburzeniami neuropsychiatrycznymi, w tym z depresją oraz uzależnieniami, a także determinuje inne cechy organizmu, takie jak np. osiągnięcia sportowe. Niewiele badań analizuje związek między polimorfizmem rs6265 a predyspozycją do uprawiania sportu.
Wnioski. Wyniki badań naukowych dotyczących wpływu wariantów polimorficznych rs6265 BDNF na ryzyko depresji i uzależnień są niespójne. Dlatego potrzebne są dalsze eksperymenty, aby wiarygodnie określić, w jaki sposób rs6265 wpływa na ekspresję i funkcję genu.
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