Nikhil Prasad Fact checked by:Thailand Medical News Team Aug 07, 2024 3 months, 2 weeks, 14 hours, 47 minutes ago
Medical News: Insomnia, a widespread sleep disorder, disrupts the lives of millions globally, leading to various daytime impairments and health issues. A groundbreaking study conducted by the AdSalutem Institute for Healthy Sleep in Barcelona, Spain, sheds light on a potential genetic cause for insomnia. This research uncovers the significant prevalence of diamine oxidase (DAO) enzyme deficiency among individuals suffering from insomnia-related symptoms. This
Medical News report delves into the comprehensive findings of the study, providing an in-depth understanding of the potential link between genetic variations and sleep disorders.
Genetic Diamine oxidase deficiency as a potential cause of insomnia
The Role of DAO in Sleep Regulation
Diamine oxidase (DAO) is an essential enzyme responsible for breaking down histamine, a compound that plays various roles in the body, including the regulation of sleep. Histamine is known for promoting wakefulness, and its levels are typically higher during the day and lower at night. DAO helps maintain this balance by degrading histamine, preventing excessive wakefulness. However, when DAO activity is compromised, histamine levels can remain elevated, potentially leading to sleep disturbances and insomnia.
Study Overview and Methodology
Researchers Raquel López García, Júlia Ferrer-Garcia, Anna Sansalvador, and Maria-Antonia Quera-Salva conducted a detailed study involving 167 adult patients who sought treatment for insomnia at the AdSalutem Institute between May and November 2023. The primary objective was to assess the prevalence of DAO enzyme deficiency caused by single nucleotide polymorphisms (SNPs) in the AOC1 gene, which encodes the DAO enzyme.
Participant Selection and Genetic Testing
Participants included adults aged 18 and above, experiencing insomnia-related symptoms such as difficulty falling asleep, trouble staying asleep, or waking up too early. Individuals with other sleep disorders or previous diagnoses of DAO deficiency were excluded. Saliva samples were collected from each participant, and genetic testing was performed to identify four specific SNP variants in the AOC1 gene: c.691G>T (rs2052129), c.47C>T (rs10156191), c.995C>T (rs1049742), and c.1990C>G (rs1049793).
Key Findings of the Study
The results revealed a striking prevalence of genetic DAO deficiency among the participants. A total of 138 patients, representing 82.6% of the sample, had at least one of the four SNP variants, indicating a high rate of DAO deficiency in individuals with insomnia. This finding suggests a strong genetic component in the development of insomnia.
Common Insomnia Symptoms
The study found that difficulty staying asleep was the most prevalent symptom, reported by 88% of the patients. Additionally, 60.5% of participants struggled with falling asleep, and 53.9% experienced early morning awakenings. These symptoms were often severe, with more
than half of the patients reporting insomnia symptoms every day.
Daytime Consequences of Insomnia
The impact of insomnia extended beyond nighttime disturbances. Nearly all participants (99.4%) reported experiencing daytime consequences of their sleep problems. The most common issues included fatigue (79.6%), mood changes (72.5%), and impaired concentration (70.1%). These daytime impairments significantly affected the patients' quality of life, emphasizing the need for effective treatment strategies.
Detailed Analysis of SNP Variants
The Influence of DAO-Score
The study introduced the concept of a DAO-score, reflecting the number of heterozygous and homozygous SNP variants present in an individual. Patients with a higher DAO-score (≥4) exhibited more severe insomnia symptoms, particularly trouble staying asleep and early morning awakening. This correlation underscores the potential role of genetic variations in exacerbating sleep disorders.
Impact of the c.1990C>G Variant
Among the four SNP variants, the c.1990C>G variant stood out as particularly influential. Carriers of this variant had significantly higher rates of trouble staying asleep (94.4%) and early morning awakening (66.2%) compared to non-carriers. This finding highlights the specific impact of this genetic variation on sleep quality.
Implications for Insomnia Treatment
The study's findings suggest that genetic testing for DAO deficiency could be a valuable tool in diagnosing and treating insomnia. Identifying patients with genetic variations that reduce DAO activity may allow healthcare providers to tailor treatment strategies more effectively. One potential approach is DAO enzyme supplementation, which could help normalize histamine levels and improve sleep quality.
Conclusion
This pioneering study provides compelling evidence of a potential link between genetic DAO deficiency and insomnia. The high prevalence of DAO deficiency among individuals with insomnia symptoms underscores the importance of considering genetic factors in the diagnosis and treatment of sleep disorders. Further research is needed to confirm these findings and explore the therapeutic benefits of DAO supplementation for improving sleep quality.
The study findings were published in the peer-reviewed Journal of Clinical Medicine.
https://www.mdpi.com/2077-0383/13/16/4583
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