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ID naloge: 94 Letnik: 2000 Predmet: oftalmologija
Polimorfizmi dopaminskih receptorjev pri bolnikih s pigmentno retinopatijo
Avtor: Melita T. Kermavnar
Mentor: doc. dr. sci. Borut Peterlin, dr. med., doc. dr. sci. Marko Hawlina, dr. med.
Uvod. Dopamin (DA) je glavni kateholamin v mrežnici sesalcev. Ima pomembno vlogo pri delovanju mrežnice in, skupaj z melatoninom, pri obnavljanju in fagocitozi izrabljenih diskov fotoreceptorskih celic v pigmentnem epiteliju. Kljub temu, da najdemo DA celice samo v notranjem pleksiformnem sloju, so D1 in D2 receptorji prisotni v celotni debelini mrežnice, od pigmentnega epitelija do ganglijskih celic. Živalski model RCS podgan (Royal College of Surgeons) z okvarjeno fagocitozo je pokazal podobno sliko, kot jo vidimo pri bolnikih z napredovalo pigmentno retinopatijo (RP). Na podlagi raziskav na podganah in dejstvu, da ima DA pomembno vlogo pri obnavljanju mrežnice, sklepamo, da so nekateri polimorfizmi DA receptorjev lahko udeleženi pri nastanku bolezni.
Materiali in metode. Primerjali smo skupino 65 bolnikov in 80 zdravih ljudi. DNA smo izolirali iz venske krvi po standardnih postopkih. Uporabili smo zacetne oligonukleotide, ki so bili predhodno opisani v literaturi v povezavi z drugimi boleznimi, da smo pomnožili dolocene odseke treh dopaminskih receptorjev (DRD1-3). PCR produkt smo cepili z restrikcijskimi encimi DdeI (DRD1), TaqI (DRD2) in MspI (DRD3) in rezultat prikazali na 4% agaroznem gelu za dolocitev genotipov. Statisticno smo primerjali tri modele dedovanja (kodominantni, dominantni in recesivni) s c2-testom.
Rezultati. Našli smo verjetnost povezave med RP in DRD2 TaqI RFLP po recesivnem modelu dedovanja (OR = 1,9 (95% CI: 1,7-2,3), p = 0,08).Ostali polimorfizmi in modeli dedovanja niso pokazali pomembne povezave z RP.
Zakljucek. Velika verjetnost povezave obstaja med RP in DRD2 polimorfizmom, ki je bil opisan v povezavi s shizofrenijo, alkoholizmom in odvisniškim obnašanjem, vendar pa je potrebno narediti nadaljnje raziskave, da potrdimo pomembnost DRD2 v patogenezi RP.
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[Abstract / English version]
Polymorphisms of dopamine receptors in patients with retinitis pigmentosa
Author: Melita T. Kermavnar
Mentor: doc. dr. sci. Borut Peterlin, dr. med., doc. dr. sci. Marko Hawlina, dr. med.
Introduction. Dopamine (DA) is the predominant catecholamine in mammalian retina. It has a specific role in modulation of retinal function and, together with melatonin, retinal renewal and phagocytosis of shed discs by the retinal pigment epithelium. Although the DA cells are only found in the inner plexiform layer, the D1- and D2-type receptors are widespread from the pigment epithelium to the ganglion cells. Animal model of RCS (Royal College of Surgeons) rats which have impaired retinal phagocytosis has shown an appearance similar to the clinical picture seen in patients with advanced retinitis pigmentosa (RP). Based on RCS rats' studies and the fact that DA has an important role in retinal renewal we assume that certain DA receptor polymorphisms might be a predisposing factor for RP.
Materials and methods. We compared a group of 65 RP patients and 80 healthy individuals. DNA was isolated from venous blood by standard procedures. We used primers previously described by different authors to amplify specific DNA segments of three DA receptors (DRD1-3), which were reported to be associated with other diseases. PCR product was cleaved with DdeI, TaqI or MspI restriction enzymes (DRD1, DRD2, DRD3 respectively) and presented on 4% agarose gel for determination of genotypes. Three models of inheritance (codominant, dominant, recessive) were statistically compared with c2-test.
Results. We found an evidence for association between DRD2 TaqI RFLP, OR = 1,9 (95% CI: 1,7-2,3), p = 0,08, under recessive model of inheritance. Other models of inheritance for any of the DRD polymorphisms did not show a significant association with RP.
Conclusion. A potential association was found between RP and DRD2 polymorphism which was previously reported to be associated with novelty seeking behavior, alcoholism and schizophrenia. Further investigation is needed to confirm potential implication of DRD2 in the pathogenesis of RP.
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