Role of histidine decarboxylase gene in the pathogenesis of Tourette syndrome

Xu, Lulu; Zhang, Cheng; Zhong, Meixiang; Che, Fengyuan; Guan, Chengcheng; Zheng, Xueping; Liu, Shiguo

doi:10.1002/brb3.2511

Cited by 5 publications

(3 citation statements)

References 95 publications

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“…In addition, an animal study showed that histidine decarboxylase knockout mice exhibited Tourette syn- drome-like phenomenology [28]. This indirectly supports the involvement of MAPK signaling pathway in Tourrete syndrome since histidine decarboxylase produces histamine, which in turn may be involved in regulating the physiological responses of cells by interacting with the MAPK signaling pathway [29].…”

Section: Discussionmentioning

confidence: 80%

Epigenome-wide Association Study for Tic Disorders in Children: A Preliminary Study in Korean Population

Ko,

Chi,

Nam

et al. 2024

Clin Psychopharmacol Neurosci

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Objective Tic disorders can affect the quality of life in both childhood and adolescence. Many factors are involved in the etiology of tic disorders, and the genetic and epigenetic factors of tic disorders are considered complex and heterogeneous. Methods In this study, the differentially methylated regions (DMRs) between normal controls (n = 24; aged 6−15; 7 females) and patients with tic disorders (n = 16; aged 6−15; 5 females) were analyzed. We performed an epigenome-wide association study of tic disorders in Korean children. The tics were assessed using Yale Global Tic Severity Scale. The DNA methylation data consisted of 726,945 cytosine phosphate guanine (CpG) sites, assessed using the Illumina Infinium MethylationEPIC (850k) BeadChip. The DNA methylation data of the 40 participants were retrieved, and DMRs between the four groups based on sex and tic disorder were identified. From 28 male and 16 female samples, 37 and 38 DMRs were identified, respectively. We analyzed the enriched terms and visualized the network, heatmap, and upset plot. Results In male, Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analysis revealed hypomethylated patterns in the ligand, receptor, and second signal transductors of the PI3K-Akt and MAPK signaling pathway (most cells were indicated as green color), and in female, the opposite patterns were revealed (most cells were indicated as red color). Five mental disorder-related enriched terms were identified in the network analysis. Conclusion Here, we provide insights into the epigenetic mechanisms of tic disorders. Abnormal DNA methylation patterns are associated with mental disorder-related symptoms.

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Section: Discussionmentioning

confidence: 80%

Epigenome-wide Association Study for Tic Disorders in Children: A Preliminary Study in Korean Population

Ko,

Chi,

Nam

et al. 2024

Clin Psychopharmacol Neurosci

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“…HDC homozygous and heterozygote null mice both developed Tourette-like syndrome, and an injection with histamine significantly reduced the stereotypies [ 15 ]. HDC KO mice appear similar to TS patients with the HDC Trp317Stop variant and also have increased levels of dopamine and elevated dopamine receptors in the substantia nigra [ 16 ]. In addition, mice lacking HDC show a reduced number of mast cells with less granules and altered morphology [ 9 ].…”

Section: Discussionmentioning

confidence: 99%

Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders

Lintas

Sacco

Azzarà

et al. 2022

Genes

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The involvement of the Histaminergic System (HS) in neuropsychiatric disease is not well-documented, and few studies have described patients affected by different neuropsychiatric conditions harbouring disruptions in genes involved in the HS. In humans, histamine is synthetised from histidine by the histidine decarboxylase enzyme encoded by the HDC gene (OMIM*142704). This is the sole enzyme in our organism able to synthetise histamine from histidine. Histamine is also contained in many different food types. We hereby describe a twenty-one-year-old female diagnosed with a borderline intellectual disability with autistic traits and other peculiar neuropsychological features carrying a 175-Kb interstitial deletion on chromosome 15q21.2. The deletion was inherited from the mother, who was affected by a severe anxiety disorder. The deleted region contains entirely the HDC and the SLC27A2 genes and partially the ATP8B4 gene. The HDC gene has been previously associated with Tourette Syndrome (TS). Based on the functional role of the HDC, we propose this gene as the best candidate to explain many traits associated with the clinical phenotype of our patient and of her mother.

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“…Serotonin is abundantly present in the digestive system and is closely related to the movement and secretion of the gastrointestinal tract, animal emotion regulation, learning, and memory [ 12 ]. HDC catalyzes histidine to histamine, which is involved in different physiological processes, including nerve signaling [ 13 ], cell proliferation [ 14 ], gastric acid secretion [ 15 , 16 ], and immune responses to allergies and inflammation [ 5 , 17 ]. CSAD catalyzes cysteine sulfinic acid to hypotaurine, which is further oxidized to taurine.…”

Section: Introductionmentioning

confidence: 99%

A Simple and Efficient Method for the Substrate Identification of Amino Acid Decarboxylases

Fang

Wang

Jia

et al. 2022

IJMS

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Amino acid decarboxylases convert amino acids into different biogenic amines which regulate diverse biological processes. Therefore, identifying the substrates of amino acid decarboxylases is critical for investigating the function of the decarboxylases, especially for the new genes predicted to be amino acid decarboxylases. In the present work, we have established a simple and efficient method to identify the substrates and enzymatic activity of amino acid decarboxylases based on LC-MS methods. We chose GAD65 and AADC as models to validate our method. GAD65 and AADC were expressed in HEK 293T cells and purified through immunoprecipitation. The purified amino acid decarboxylases were subjected to enzymatic reaction with different substrate mixtures in vitro. LC-MS analysis of the reaction mixture identified depleted or accumulated metabolites, which corresponded to candidate enzyme substrates and products, respectively. Our method successfully identified the substrates and products of known amino acid decarboxylases. In summary, our method can efficiently identify the substrates and products of amino acid decarboxylases, which will facilitate future amino acid decarboxylase studies.

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Role of histidine decarboxylase gene in the pathogenesis of Tourette syndrome

Cited by 5 publications

References 95 publications

Epigenome-wide Association Study for Tic Disorders in Children: A Preliminary Study in Korean Population

Epigenome-wide Association Study for Tic Disorders in Children: A Preliminary Study in Korean Population

Genetic Dysruption of the Histaminergic Pathways: A Novel Deletion at the 15q21.2 locus Associated with Variable Expressivity of Neuropsychiatric Disorders

A Simple and Efficient Method for the Substrate Identification of Amino Acid Decarboxylases

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