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Association of serotonin transporter promoter (5-HTTLPR) and intron 2 (VNTR-2) polymorphisms with treatment response in temporal lobe epilepsy


Hećimović, Hrvoje; Štefulj, Jasminka; Čičin-Šain, Lipa; Demarin, Vida; Jernej, Branimir
Association of serotonin transporter promoter (5-HTTLPR) and intron 2 (VNTR-2) polymorphisms with treatment response in temporal lobe epilepsy // Epilepsy research, 91 (2010), 1; 35-38 doi:10.1016/jeplepsyres.2010.06.008 (međunarodna recenzija, članak, znanstveni)


Naslov
Association of serotonin transporter promoter (5-HTTLPR) and intron 2 (VNTR-2) polymorphisms with treatment response in temporal lobe epilepsy

Autori
Hećimović, Hrvoje ; Štefulj, Jasminka ; Čičin-Šain, Lipa ; Demarin, Vida ; Jernej, Branimir

Izvornik
Epilepsy research (0920-1211) 91 (2010), 1; 35-38

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Temporal lobe epilepsy; serotonin; 5-HTTLPR; VNTR-2; limbic system

Sažetak
Temporal lobe epilepsy (TLE) is the most common epilepsy and about 30% of patients have poorly controlled seizures. Neurobiology underlying responsiveness to medical treatment in TLE patients is unclear and there are currently no biological tests to predict course of the disease. Animal and human studies repeatedly suggested serotonergic dysfunction in subjects with TLE. We investigated association of serotonin transporter (5-HTT) gene polymorphisms with medical treatment response in patients with TLE. We analyzed 5-HTT gene linked polymorphic region (5-HTTLPR) in promoter and variable number of tandem repeats in the second intron of the 5-HTT gene (VNTR-2) in 101 consecutive subjects with TLE. TLE patients with the combination of transcriptionally more efficient genotypes, i.e. 5-HTTLPR L/L and VNTR-2 12/12, had increased seizure refractoriness to antiepileptic medication therapy and shorter periods of seizure freedom, than subjects with other combinations of the 5- HTT genotypes. There were no other clinical or demographic differences among patient groups based on the 5-HTT genotypes. Combination of the 5-HTT genotypes linked with higher 5-HTT gene expression was found to be associated with worse response to optimal drug therapy. Further studies should determine potential role of this 5-HTT genotype polymorphism in epileptogenesis.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti



POVEZANOST RADA


Projekt / tema
098-1081870-2395 - Serotonergična neurotransmisija: geni, proteini i ponašanje (Jasminka Štefulj, )
098-1081870-2397 - Serotonergični mehanizmi u alkoholizmu (Lipa Čičin-Šain, )
134-1340036-0033 - Uloga genetskih markera u razvoju cerebralne aterosklerotske bolesti (Vida Demarin, )
134-1340036-0034 - Funkcijska dijagnostika moždane cirkulacije (Arijana Lovrenčić-Huzjan, )

Ustanove
Institut "Ruđer Bošković", Zagreb,
Medicinski fakultet, Zagreb,
KBC "Sestre Milosrdnice"

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE


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