ArticleEuropean journal of human genetics : EJHG2021
IMPDH2: a new gene associated with dominant juvenile-onset dystonia-tremor disorder.
Article in European journal of human genetics : EJHG, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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13 citing papers in PubMed.
- Metabolic functions for molecular chaperones and stress proteins in microcephaly.Cellular and molecular life sciences : CMLS · 2025Review
- IMPDH2's Central Role in Cellular Growth and Diseases: A Potential Therapeutic Target.Cell proliferation · 2025Review
- Purine Metabolism and Dystonia: Perspectives of a Long-Promised Relationship.Annals of neurology · 2025Review
- Depletion of nuclear cytoophidia in Alzheimer's disease.Free neuropathology · 2025Article
- IMPDH2 filaments protect from neurodegeneration in AMPD2 deficiency.EMBO reports · 2024Article
- The landscape of rare genetic variation associated with inflammatory bowel disease and Parkinson's disease comorbidity.Genome medicine · 2024Article
- Dissecting genetic architecture of rare dystonia: genetic, molecular and clinical insights.Journal of medical genetics · 2024Article
- Molecular Mechanisms for Changing Brain Connectivity in Mice and Humans.International journal of molecular sciences · 2023Article
- Neurodevelopmental disorder mutations in the purine biosynthetic enzyme IMPDH2 disrupt its allosteric regulation.The Journal of biological chemistry · 2023Article
- Inborn Errors of Purine Salvage and Catabolism.Metabolites · 2023Review
- The gateway to guanine nucleotides: Allosteric regulation of IMP dehydrogenases.Protein science : a publication of the Protein Society · 2022Review
- IMPDH dysregulation in disease: a mini review.Biochemical Society transactions · 2022Review
- Genomics elucidates both common and rare disease aetiology.European journal of human genetics : EJHG · 2021Article
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Abstract
The aetiology of dystonia disorders is complex, and next-generation sequencing has become a useful tool in elucidating the variable genetic background of these diseases. Here we report a deleterious heterozygous truncating variant in the inosine monophosphate dehydrogenase gene (IMPDH2) by whole-exome sequencing, co-segregating with a dominantly inherited dystonia-tremor disease in a large Finnish family. We show that the defect results in degradation of the gene product, causing IMPDH2 deficiency in patient cells. IMPDH2 is the first and rate-limiting enzyme in the de novo biosynthesis of guanine nucleotides, a dopamine synthetic pathway previously linked to childhood or adolescence-onset dystonia disorders. We report IMPDH2 as a new gene to the dystonia disease entity. The evidence underlines the important link between guanine metabolism, dopamine biosynthesis and dystonia.
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