H2020Индивидуална стипендия2018–2021

SZFunc · Functional Analysis of Schizophrenia Risk Gene RBM12

„Хоризонт 2020“ — Действия „Мария Склодовска-Кюри“

Период: 2018-09-01 → 2021-08-31
Финансиране от ЕС: 269 858 €
Участници: 2
Схема: MSCA-IF-GF

Линиите свързват координатора с партньорите.

Накратко на български

Генът RBM12 и неговите мутации се анализират чрез опити с клетки и модифицирани зебр fish. Това помага за по-доброто разбиране на молекулярните причини за развитието на шизофренията, което може да доведе до нови методи за лечение.

Този кратък обзор е генериран от изкуствен интелект

Кратко обяснение, генерирано от езиков модел по текста на CORDIS. Оригиналът е по-долу.

Резултати накратко

Functional Analysis of Schizophrenia Risk Gene RBM12

Schizophrenia is a devastating disease with substantial costs for society. Although the disease has been described for thousands of years, its biological basis is unknown and there are no biomarkers. Current treatment, antipsychotic drugs, alleviates only a subset of the symptoms. Our project aimed to use the association of truncating variants of RBM12 with schizophrenia to better understand the molecular pathology of the disease, potentially leading to new therapies. We used two model systems to study RBM12: mutant zebrafish lines created using CRISPR/Cas9 and HEK293 cells overexpressing alternate variants of RBM12.The zebrafish studies allowed us to learn about the effect of Rbm12 mutation on the brain and behavior, whereas the cell model led to new insights into the function of RBM12 at the molecular level. Together, our results enhance today's understanding of the molecular pathology of schizophrenia.

Текст от CORDIS, на английски · Данни: CORDIS, © Европейски съюз

Цел на проекта

Schizophrenia is a devastating disease with high societal costs. However, little is known about the biological mechanisms behind the disorder, a knowledge gap that has stalled the development of new treatments. We recently discovered that truncating mutations in RBM12, an RNA binding protein, are associated with schizophrenia. This finding provides a novel entry point to understanding the disease, but fully exploiting the discovery requires further examination of the function of RBM12. Here I propose to begin that effort by using the zebrafish model system to first, determine the role of RBM12 in brain development; second, discover the role of RBM12 in brain function as assessed by functional connectivity and behavioural assays; and third, identify RBM12’s direct and indirect targets using RNA-seq and iCLIP (individual-nucleotide resolution cross-linking and immunoprecipitation). These studies will aid in illuminating the biological basis of schizophrenia and, ultimately, lead to novel treatments.

Оригинален текст от CORDIS (на английски).

Участници

UNIVERSITY COLLEGE LONDON · LondonКоординаторОбединеното кралство
THE REGENTS OF THE UNIVERSITY OF CALIFORNIA · OaklandСъединени щати