One Single Nucleotide Polymorphism of the TRPM2 Channel Gene Identified as a Risk Factor in Bipolar Disorder Associates with Autism Spectrum Disorder in a Japanese Population.

One Single Nucleotide Polymorphism of the TRPM2 Channel Gene Identified as a Risk Factor in Bipolar Disorder Associates with Autism Spectrum Disorder in a Japanese Population.

Publication date: Feb 07, 2020

The transient receptor potential melastatin 2 (TRPM2) is a non-specific cation channel, resulting in Ca influx at warm temperatures from 34 ^0C to 47 ^0C, thus including the body temperature range in mammals. TRPM2 channels are activated by ?-NAD, ADP-ribose (ADPR), cyclic ADPR, and 2′-deoxyadenosine 5′-diphosphoribose. It has been shown that TRPM2 cation channels and CD38, a type II or type III transmembrane protein with ADP-ribosyl cyclase activity, simultaneously play a role in heat-sensitive and NAD metabolite-dependent intracellular free Ca concentration increases in hypothalamic oxytocinergic neurons. Subsequently, oxytocin (OT) is released to the brain. Impairment of OT release may induce social amnesia, one of the core symptoms of autism spectrum disorder (ASD). The risk of single nucleotide polymorphisms (SNPs) and variants of TRPM2 have been reported in bipolar disorder, but not in ASD. Therefore, it is reasonable to examine whether SNPs or haplotypes in TRPM2 are associated with ASD. Here, we report a case-control study with 147 ASD patients and 150 unselected volunteers at Kanazawa University Hospital in Japan. The sequence-specific primer-polymerase chain reaction method together with fluorescence correlation spectroscopy was applied. Of 14 SNPs examined, one SNP (rs933151) displayed a significant p-value (OR = 0.1798, 95% CI = 0.039, 0.83; Fisher’s exact test; p = 0.0196). The present research data suggest that rs93315, identified as a risk factor for bipolar disorder, is a possible association factor for ASD.

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Mahmuda, N.A., Yokoyama, S., Munesue, T., Hayashi, K., Yagi, K., Tsuji, C., and Higashida, H. One Single Nucleotide Polymorphism of the TRPM2 Channel Gene Identified as a Risk Factor in Bipolar Disorder Associates with Autism Spectrum Disorder in a Japanese Population. 15232. 2020 Diseases (8):1.

Concepts Keywords
ADP Single Nucleotide Polymorphism
Autism Spectrum Disorder Spectroscopy
Bipolar Disorder SNP
Body Temperature Single-nucleotide polymorphism
Brain TRPM2
Cation Autism spectrum
Haplotypes Autism
Hypothalamic RTT
Intracellular Ion channels
Japan Psychiatry
Japanese Psychiatric diagnosis
Kanazawa Branches of biology
Metabolite
NAD
Neurons
Oxytocin
Polymerase Chain Reaction
Primer
Ribose
Risk Factor
Single Nucleotide Polymorphism
Single Nucleotide Polymorphisms
SNP
SNPs
Transient Receptor Potential
Transmembrane

Semantics

Type Source Name
drug DRUGBANK Oxytocin
drug DRUGBANK Amino acids
disease MESH genetic Diseases
drug DRUGBANK Coenzyme M
disease MESH amnesia
drug DRUGBANK Adenosine-5-Diphosphoribose
drug DRUGBANK Nadide
disease MESH Autism Spectrum Disorder
disease MESH Bipolar Disorder
disease MESH Risk Factor
disease MESH psychiatric diseases
disease MESH social interaction
disease MESH shock
disease MESH abnormalities
disease MESH diagnosis
disease MESH Asperger Syndrome
disease MESH Autism
disease MESH Social Communication Disorders
disease MESH attention deficit hyperactivity disorder

Original Article

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