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Report for Clinical Trial NCT01378026

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

Study of the Role of G72 in Amyotrophic Lateral Sclerosis: Biomarker Discovery and Mechanism Investigation

G72 gene is located on the common linkage locus in bipolar disorder and schizophrenia, and it encodes D-amino acid oxidase activator (DAOA). There are evidences that elucidated G72 and D-amino acid oxidase(DAO) together playing a critical role in the pathophysiology of schizophrenia. Recently, reports discovered missense mutations in the DAO (R199W DAO and R38H DAO) are associated with familial amyotrophic lateral sclerosis (FALS), and our preliminary data showed that the level of G72 autoantibody decreases in patients with ALS compared with normal control. Thus, we want to find out whether G72 plays a role in ALS and neurodegenerative diseases including Alzheimer disease and Parkinson's disease. First, we detect G72 protein and its autoantibody in sera of neurodegenerative diseases patients using ELISA and Western blotting, and the data are compared with normal control. We hypothesize the levels of G72 protein and its autoantibody in neurodegenerative diseases are less than those in normal control. Then, we extract genomic DNA of neurodegenerative diseases patients, and use polymerase chain reaction(PCR) to detect single nucleotide polymorphism (SNP) of G72. We aim to detect G72 missense SNP variants presented in ALS, AD and PD.

NCT01378026 Amyotrophic Lateral Sclerosis Alzheimer Disease Parkinson's Disease
MeSH:Parkinson Disease Alzheimer Disease Motor Neuron Disease Amyotrophic Lateral Sclerosis Sclerosis
HPO:Abnormal anterior horn cell morphology Alzheimer disease Amyotrophic lateral sclerosis



Time Perspective: Retrospective

Case Control


There are 2 SNPs

SNPs


1 R199W

Recently, reports discovered missense mutations in the DAO (R199W DAO and R38H DAO) are associated with familial amyotrophic lateral sclerosis (FALS), and our preliminary data showed that the level of G72 autoantibody decreases in patients with ALS compared with normal control. --- R199W ---


2 R38H

Recently, reports discovered missense mutations in the DAO (R199W DAO and R38H DAO) are associated with familial amyotrophic lateral sclerosis (FALS), and our preliminary data showed that the level of G72 autoantibody decreases in patients with ALS compared with normal control. --- R199W --- --- R38H ---



HPO Nodes


HPO: