Association of myasthenia gravis with polymorphisms in the gene of histamine N-methyltransferase

Kellermayer, Blanka; Polgár, Noémi; Pál, József; Bánáti, Miklós; Maász, Anita; Kisfali, Péter; Hosszu, Zsolt; Juhász, Annamária; Jensen, Henrik Boye; Tordai, Attila; Rózsa, Csilla; Melegh, Béla; Illés, Zsolt

doi:10.1016/j.humimm.2013.07.016

Cited by 9 publications

(4 citation statements)

References 32 publications

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“…These findings extend the list of diseases already associated with the gene, including alcoholism [37], essential tremor [38], allergic rhinitis [39], asthma [40], and myasthenia gravis [41]. Future studies should explore to what extent histamine dysregulation is important in the onset or progression of these disorders.…”

Section: Methodsmentioning

confidence: 56%

Association of Histamine N-Methyltransferase Thr105Ile Polymorphism with Parkinson’s Disease and Schizophrenia in Han Chinese: A Case-Control Study

Yang

Liu

Zhang³

et al. 2015

PLoS ONE

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Parkinson’s disease (PD) and schizophrenia (SCZ) are frequent central nervous disorders that have unclear etiologies but that show similarities in their pathogenesis. Since elevated histamine levels in the brain have been associated with PD and SCZ, we wanted to explore whether the Thr105Ile substitution in the histamine N-methyltransferase gene (HNMT-Thr105Ile), which impairs histamine degradation, is associated with either disease. We used the ligase detection reaction to genotype a case-control cohort of Han Chinese patients with PD or SCZ and healthy controls at the HNMT-Thr105Ile locus. The Ile allele was associated with reduced risk of PD (OR 0.516, 95%CI 0.318 to 0.838, p = 0.007) and of SCZ (OR 0.499, 95%CI 0.288 to 0.865, p = 0.011). Genotype frequencies and minor allele frequencies were similar between patients and controls when we compared males with females or early-onset patients with late-onset ones. Genotype and allele frequencies were not significantly different between PD patients with dyskinesia and PD patients without dyskinesia. Our results suggest that the heterozygous Thr/Ile genotype at the HNMT-Thr105Ile locus and the minor Ile105 allele protect against PD and SCZ in Han Chinese.

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Section: Methodsmentioning

confidence: 56%

Association of Histamine N-Methyltransferase Thr105Ile Polymorphism with Parkinson’s Disease and Schizophrenia in Han Chinese: A Case-Control Study

Yang

Liu

Zhang³

et al. 2015

PLoS ONE

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“…In contrast, a polymorphism at nucleotide 939 in the human HNMT increases both HNMT protein expression and activity. This polymorphism was associate with myasthenia gravis and ADHD [138,139].…”

Section: Astrocytes Are Involved In Histamine Eliminationmentioning

confidence: 87%

Inhibition of Astrocytic Histamine N-Methyltransferase as a Possible Target for the Treatment of Alzheimer’s Disease

et al. 2021

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Alzheimer’s disease (AD) represents the principal cause of dementia among the elderly. Great efforts have been established to understand the physiopathology of AD. Changes in neurotransmitter systems in patients with AD, including cholinergic, GABAergic, serotoninergic, noradrenergic, and histaminergic changes have been reported. Interestingly, changes in the histaminergic system have been related to cognitive impairment in AD patients. The principal pathological changes in the brains of AD patients, related to the histaminergic system, are neurofibrillary degeneration of the tuberomammillary nucleus, the main source of histamine in the brain, low histamine levels, and altered signaling of its receptors. The increase of histamine levels can be achieved by inhibiting its degrading enzyme, histamine N-methyltransferase (HNMT), a cytoplasmatic enzyme located in astrocytes. Thus, increasing histamine levels could be employed in AD patients as co-therapy due to their effects on cognitive functions, neuroplasticity, neuronal survival, neurogenesis, and the degradation of amyloid beta (Aβ) peptides. In this sense, the evaluation of the impact of HNMT inhibitors on animal models of AD would be interesting, consequently highlighting its relevance.

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“…ESYT3 was found to affect hypothalamic ER stress to regulate the cell functions 54 . Histamine Nmethyltransferase (HNMT) is the enzyme of histamine, which has a key function in regulating autoimmune diseases 55 . KCNH2 is important for prevention and treatment of potassium channels related diseases and cancers 56,57 .…”

Section: Discussionmentioning

confidence: 99%

Identification of candidate therapeutics and signaling pathways for multiple myeloma

2021

Preprint

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Multiple myeloma (MM), a plasma cell malignancy, is related to critical morbidity due to end-organ destruction. A number of factors affect the MM cell proliferation and functions. Though MM is not curable, novel targets and inhibitors have shown great effects on MM patients. Here, we aim to identify significant genes and signaling pathways of MM with SI2 treatment using a bioinformatics method. The GSE156871 dataset was originally produced by using the high-throughput BGISEQ-500. The KEGG and GO results suggested that biological pathways such as “the complement and coagulation cascades” and “the transcription activator activity” are mostly affected in the SI2 treatment of MM cells. Moreover, we identified several genes including SRC, KNG1, and PI3KCG were involved in the treatment of MM cells. Therefore, our study provides further insights into the treatment of MM.

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Association of myasthenia gravis with polymorphisms in the gene of histamine N-methyltransferase

Cited by 9 publications

References 32 publications

Association of Histamine N-Methyltransferase Thr105Ile Polymorphism with Parkinson’s Disease and Schizophrenia in Han Chinese: A Case-Control Study

Association of Histamine N-Methyltransferase Thr105Ile Polymorphism with Parkinson’s Disease and Schizophrenia in Han Chinese: A Case-Control Study

Inhibition of Astrocytic Histamine N-Methyltransferase as a Possible Target for the Treatment of Alzheimer’s Disease

Identification of candidate therapeutics and signaling pathways for multiple myeloma

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