Shared Biological Pathways and Processes in Patients with Intellectual Disability: A Multicenter Study
Makaleler > Tam Makale · 2023
Yazarlar: Çağatay Günay, Duygu Aykol, Özlem Özsoy, Ece Sönmezler, Yaren Sena Hanci, Bülent Kara, Deniz Akkoyunlu Sünnetçi, Naci Cine, Adnan Deniz, Tolgahan Özer, Cemile Büşra ÖLÇÜLÜ, Özlem Yilmaz, Seda KANMAZ, Sanem Yilmaz, Hasan TEKGÜL, Nihal Yildiz, Elif Acar Arslan, Ali Cansu, Nihal Olgaç Dündar, Fatma Kusgoz, Elif Didinmez, Pınar Gençpinar, Tuğçe Aksu Uzunhan, Biray Ertürk, Alper Gezdirici, Akif Ayaz, Akgün Ölmez, Müge Ayanoğlu, Ayşe Tosun, Yasemin Topçu, Betül Kiliç, Kürşad Aydin, Ezgi Çağlar, Özlem Ersoy Kosvali, Çetin Okuyaz, Şeyda Besen, Leman Tekin Orgun, İlknur Erol, Deniz Yüksel, Abdullah Sezer, Ergin Atasoy, Ülkühan Toprak, Serdal Güngör, Bilge Ozgor, Meral Karadağ, Cengiz Dilber, Bahtiyar Şahinoğlu, Emek Uyur Yalçin, Nilüfer Eldes Hacifazlioglu, Ahmet Yaramiş, Pınar Edem, Hande Gezici Tekin, Ünsal Yilmaz, Aycan Ünalp, Sevim Turay, Didem Biçer, Gülen Gül Mert, İpek Dokurel Çetin, Serkan Kirik, Gülten Öztürk, Yasemin Karal, Aslıhan Sanri, Ayşe Aksoy, Muzaffer Polat, Nezir Özgün, Didem Soydemir, Gamze Sarikaya Uzan, Döndü Ülker Üstebay, Ayşen Gök, Mehmet Can Yeşilmen, Uluç Yiş, Gökhan Karakülah, Ahmet Bursali, Yavuz Oktay, Semra Hiz Kurul
Neuropediatrics, Uluslararası, Scopus, 2023, cilt 54, ss 225-238
DOI: 10.1055/a-2034-8528
Özet
BACKGROUND: Although the underlying genetic causes of intellectual disability (ID) continue to be rapidly identified, the biological pathways and processes that could be targets for a potential molecular therapy are not yet known. This study aimed to identify ID-related shared pathways and processes utilizing enrichment analyses. METHODS: In this multicenter study, causative genes of patients with ID were used as input for Disease Ontology (DO), Gene Ontology (GO), and Kyoto Encyclopedia of Genes and Genomes enrichment analysis. RESULTS: Genetic test results of 720 patients from 27 centers were obtained. Patients with chromosomal deletion/duplication, non-ID genes, novel genes, and results with changes in more than one gene were excluded. A total of 558 patients with 341 different causative genes were included in the study. Pathway-based enrichment analysis of the ID-related genes via ClusterProfiler revealed 18 shared pathways, with lysine degradation and nicotine addiction being the most common. The most common of the 25 overrepresented DO terms was ID. The most frequently overrepresented GO biological process, cellular component, and molecular function terms were regulation of membrane potential, ion channel complex, and voltage-gated ion channel activity/voltage-gated channel activity, respectively. CONCLUSION: Lysine degradation, nicotine addiction, and thyroid hormone signaling pathways are well-suited to be research areas for the discovery of new targeted therapies in ID patients.