Naslov
Evolutionary novel genes in neurodevelopmental disorders

Autori
Rinčić, Martina ; Kopić, Janja ; Jakšić, Boris ; Krsnik, Željka ; Borovečki, Fran ; Brečević, Lukrecija

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

Izvornik
MNS Full Proceedings / - , 2022, 159-159

Skup
8th Mediterranean Neuroscience Society Conference

Mjesto i datum
Dubrovnik, Hrvatska, 29.5.-2.6.2022

Vrsta sudjelovanja
Poster

Vrsta recenzije
Međunarodna recenzija

Ključne riječi
genes, brain, development, disorders

Sažetak
Neurodevelopmental disorders (NDDs) are an umbrella term describing various central nervous system development conditions. Here we present 26- year-old male and 51-year-old female patients demonstrating typical features of NDDs, including undeveloped speech, intellectual disability, epilepsy, and behavioral disorder associated with distinct facial characteristics. Custom chromosomal microarray in both cases detected a copy number loss in chromosome 15q13.2 encompassing the ARHGAP11B gene. ARHGAP11B gene belongs to a group of genes that evolved specifically in the human lineage, and recent findings suggest it has a crucial function in the evolutionary expansion of the neocortex. To elucidate the ARHGAP11B prenatal spatiotemporal expression pattern and its potential role in neurogenetic events during human corticogenesis, we performed immunofluorescence (IF) of diverse neuronal markers on the midfetal postmortem human brain tissue. Our results showed ARHGAP11B immunoreactive neurons in the marginal zone, cortical plate, and the subplate of the midfetal cortex, as well as its colocalization with markers of projecting neurons placed in the deep cortical layers. Our findings support a need for the ARHGAP11B gene to be investigated as a substantial risk gene underlying NDDs.

Izvorni jezik
Engleski

Znanstvena područja
Biologija, Temeljne medicinske znanosti

POVEZANOST RADA