Title of Oral/Poster Presentation

Investigation of the pathogenicity of the CHL1 Leu17Phe polymorphism in schizophrenia

Presenter Information

Brooke HansenFollow

Class

Article

Department

Biology

Faculty Mentor

Mona Buhusi

Presentation Type

Poster Presentation

Abstract

Schizophrenia is a devastating brain disorder that affects a surprising 1% of the world's population. Despite this prevalence, little is known about the molecular aspects of this disorder making it both difficult to diagnose and treat. Several studies have identified the CHL1 gene (Close Homolog of L1), as a risk gene for schizophrenia. CHL1, a neural cell adhesion molecule, has major roles in cell migration, and the development of dendritic and axonal projections. Therefore any deficiency in the CHL1 gene may result in brain defects similar to those identified in schizophrenic populations. Moreover, in genetically engineered mice, studies have shown that deficiency of CHL1 results in altered emotional reactivity and motor coordination, reduced sensorimotor gating and impaired working memory, similar characteristics to those seen in schizophrenia patients. The purpose of this study is to induce a point mutation (changing leucine to phenylalanine) within the signal peptide region of CHL1 in order to produce a functional deficit of the CHL1 gene. This polymorphism has been identified as a risk factor for schizophrenia in Asian populations. Through this mutagenesis, we aim to study CHL1 protein recruitment to the cell membrane to understand CHL1's role in schizophrenia at a molecular level.

Start Date

4-9-2015 1:30 PM

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Apr 9th, 1:30 PM

Investigation of the pathogenicity of the CHL1 Leu17Phe polymorphism in schizophrenia

Schizophrenia is a devastating brain disorder that affects a surprising 1% of the world's population. Despite this prevalence, little is known about the molecular aspects of this disorder making it both difficult to diagnose and treat. Several studies have identified the CHL1 gene (Close Homolog of L1), as a risk gene for schizophrenia. CHL1, a neural cell adhesion molecule, has major roles in cell migration, and the development of dendritic and axonal projections. Therefore any deficiency in the CHL1 gene may result in brain defects similar to those identified in schizophrenic populations. Moreover, in genetically engineered mice, studies have shown that deficiency of CHL1 results in altered emotional reactivity and motor coordination, reduced sensorimotor gating and impaired working memory, similar characteristics to those seen in schizophrenia patients. The purpose of this study is to induce a point mutation (changing leucine to phenylalanine) within the signal peptide region of CHL1 in order to produce a functional deficit of the CHL1 gene. This polymorphism has been identified as a risk factor for schizophrenia in Asian populations. Through this mutagenesis, we aim to study CHL1 protein recruitment to the cell membrane to understand CHL1's role in schizophrenia at a molecular level.