SNPMiner Trials by Shray Alag


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Report for Mutation R199W

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 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

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 ---



HPO Nodes


Abnormal anterior horn cell morphology
Genes 18
ASAH1 TFG CPLANE1 CEP126 DCTN1 IGHMBP2 PRPH SMN1 SMN2 VRK1 SMN1 ATXN3 UBA1 SOD1 SMN1 NEFH SETX GLE1
Amyotrophic lateral sclerosis
Genes 77
MATR3 TREM2 VCP FUS PRPH ANXA11 ALS2 C9ORF72 HNRNPA1 PRPH PFN1 FUS UBQLN2 SQSTM1 ATXN2 MATR3 TBK1 CHMP2B SIGMAR1 PON1 OPTN MAPT MATR3 ANG VCP DAO ERBB4 SQSTM1 SPG11 NEFH EPHA4 CCNF ANG TARDBP DCTN1 PON2 SOD1 ANXA11 UBQLN2 GLT8D1 FIG4 OPTN DCTN1 TARDBP CHMP2B VAPB SIGMAR1 HNRNPA1 CFAP410 PFN1 PSEN1 HNRNPA1 SOD1 SPG11 C9ORF72 ALS2 TRPM7 ERBB4 CHCHD10 KIF5A VAPB PON3 FIG4 GLE1 NEK1 CHCHD10 PPARGC1A TUBA4A VCP UNC13A TBK1 VCP HNRNPA2B1 TAF15 FUS NEFH SETX
Alzheimer disease
Genes 13
MPO HFE ABCA7 PSEN1 APOE APP A2M CACNA1G PSEN2 APOE PLAU GATA1 NOS3