Naslov
MAOB single nucleotide polymorphism as potential genetic biomarker of Alzheimer's disease

Autori
Babić Leko, Mirjana ; Nikolac Perković, Matea ; Nedić Erjavec, Gordana ; Klepac, Nataša ; Švob Štrac, Dubravka ; Borovečki, Fran ; Pivac, Nela ; Hof, Patrick R. ; Šimić, Goran

Vrsta, podvrsta i kategorija rada
Sažeci sa skupova, sažetak, znanstveni

Izvornik
Book of Abstracts / Croatian Society for Neuroscience - Zagreb, 2021, 101-101

Skup
8th Croatian Neuroscience Congress

Mjesto i datum
Zagreb, Hrvatska, 24.09.2021. - 25.09.2021

Vrsta sudjelovanja
Poster

Vrsta recenzije
Domaća recenzija

Ključne riječi
Alzheimer's disease ; apolipoprotein E ; genetic biomarker ; dopaminergic system ; monoamino oxidase B ; single nucleotide polymorphism

Sažetak
The normal functioning of dopaminergic system is compromised during Alzheimer’s disease (AD). The activity of monoamine oxidase B (MAOB), enzyme involved in degradation of dopamine, is also disturbed in AD. It was observed that MAOB activity is increased during AD. Also, increased expression of MAOB was detected in hippocampus and cortex of people who suffered from AD. It was observed that MAOB rs1799836 polymorphism can affect MAOB transcription, consequently influencing also protein translation and MAOB activity. Our recent study showed that the levels of cerebrospinal fluid amyloid β1-42 were decreased in patients carrying A allele in MAOB rs1799836 polymorphism. The goal of this study was to compare MAOB rs1799836 polymorphism with APOE, the only confirmed genetic risk factor for sporadic AD. Study included 253 participants of whom 127 suffered from AD, 57 were mild cognitive impairment patients, 11 were healthy controls and 58 suffered from other primary causes of dementia. We observed that the number of APOE ɛ4/ɛ4 homozygotes and APOE ɛ4 carriers was significantly increased among patients carrying AA MAOB rs1799836 genotype. These results indicate that the MAOB rs1799836 polymorphism could be strong genetic biomarker of AD. Acknowledgements: Supported by The Croatian Science Foundation grant IP-2019-04-3584 (“Role of blood-brain barrier, innate immunity, and tau protein oligomerization in the pathogenesis of Alzheimer's disease”) to GŠ and by the Centre of Excellence for Basic, Clinical and Translational Neuroscience CoRE-NEURO (“Experimental and clinical research of hypoxic- ischemic damage in perinatal and adult brain” ; GA KK01.1.1.01.0007 funded by the European Union through the European Regional Development Fund)

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti, Kliničke medicinske znanosti, Psihologija, Kognitivna znanost (prirodne, tehničke, biomedicina i zdravstvo, društvene i humanističke znanosti)

POVEZANOST RADA