AI Article Synopsis
- A patient with chronic insomnia did not respond to standard treatments, both medication and therapy.
- Elevated serum homocysteine levels led to genetic testing that revealed a specific gene mutation related to folate metabolism.
- Targeted interventions that addressed this genetic issue ultimately resolved the patient's insomnia, showcasing a genomic approach to treatment.
Article Abstract
Unlabelled: We present a patient with chronic insomnia resistant to traditional pharmacologic (eg, sedative-hypnotics) and nonpharmacologic (eg, cognitive behavioral therapy for insomnia) therapy. A finding of elevated serum homocysteine triggered a whole-genome sequencing analysis which revealed a homozygous methylenetetrahydrofolate reductase () gene polymorphism (C677T/C677T; dbSNP rs1801133). Interventions targeting her polymorphism-dependent loss of function successfully resolved her insomnia. This case demonstrates a genomic approach for insomnia whereby successful treatment was focused on optimizing the patient's metabolome, which was altered as a result of a missense single-nucleotide polymorphism.
Citation: Kapoor V, Watson NF, Ball L. Chronic insomnia in the setting of polymorphism. . 2022;18(4):1215-1218.
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Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8974368 | PMC |
| http://dx.doi.org/10.5664/jcsm.9794 | DOI Listing |
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