Related Experiment Video
Updated: May 26, 2025

A Strategy to Identify de Novo Mutations in Common Disorders such as Autism and Schizophrenia
Published on: June 15, 2011
3-Dimensional structure prediction of C-terminal disrupted in schizophrenia 1: a suspected culprit of schizophrenia
Muhammad Qasim Khan1, Syed Babar Jamal2, Muhammad Faheem3
1Department of Bioinformatics And Biosciences, Capital University of Science And Technology (CUST), Islamabad, Pakistan.
Abstract:
Disrupted in schizophrenia 1 (DISC1) is a scaffolding protein involved in neurogenesis, synaptic development and cell signaling. It acts as a hub protein in different pathways by interacting with multiple proteins and regulates their function it is localized in various subcellular locations, including the nucleus, mitochondria, and cytoskeleton, this 854-amino acid protein comprises two segments: an N-terminal head and a C-terminal coiled-coil region. There are over two hundred interacting partners of DISC1. It is encoded by a gene present on chromosome 1q42.1 and its mutations lead to different genetic defects causing psychiatric conditions. A major genetic defect regarding DISC1 is a translocation event t(1;11) (q42.1;q14.3) which leads to a C-terminal truncated protein residues ∼1-598. This indicates the importance of DISC1 as a therapeutic target but the complete three-dimensional structure of DISC1 is yet not determined only partially reported in complexes or predicted structures are available. To understand the etiology, and pathophysiology of DISC1 the structure of the C-terminus needs to be determined as it participates in major molecular interactions. In this study, different approaches were used to determine the structure of C-terminus DISC1 where threading enabled us to develop a suitable model which was initially refined and later analyzed using quality assessment and validation tools. These findings are a key resource to understand the structural and functional properties of DISC1 and how they can help to identify new therapeutic targets for schizophrenia.
More Related Videos
Related Concept Videos
Biological Causes of Schizophrenia
Genetic Factors in Schizophrenia
The genetic basis of schizophrenia is strongly supported by family and twin...
Psychosis: Pathophysiology of Schizophrenia and Other Psychotic Disorders
Researchers have identified genetic factors that increase susceptibility to schizophrenia, underscoring the intricate interplay between genetics and environment in disease development. At the core of schizophrenia's pathophysiology is excessive dopaminergic neurotransmission within...

