Novel CLOCK and NR1D2 variants in 64 sighted Japanese individuals with non-24-hour sleep-wake rhythm disorder.
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SUBMITTER: Hida A
PROVIDER: S-EPMC10262031 | biostudies-literature | 2023 Jun
REPOSITORIES: biostudies-literature
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Novel CLOCK and NR1D2 variants in 64 sighted Japanese individuals with non-24-hour sleep-wake rhythm disorder.
Hida Akiko A Iida Aritoshi A Ukai Motoki M Kadotani Hiroshi H Uchiyama Makoto M Ebisawa Takashi T Inoue Yuichi Y Kitamura Shingo S Mishima Kazuo K
Sleep 20230601 6
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Project description:BackgroundEvidence implicates sleep/circadian factors in alcohol use, suggesting the existence of a 24-h rhythm in alcohol craving, which may vary by individual differences in sleep factors and alcohol use frequency. This study sought to (1) replicate prior findings of a 24-h rhythm in alcohol craving, and (2) examine whether individual differences in sleep timing, sleep duration, or alcohol use frequency are related to differences in the timing of the peak of the craving rhythm (i.e., the acrophase) or magnitude of fluctuation of the rhythm (i.e., amplitude). Finally, whether such associations varied by sex or racial identity was explored.MethodsTwo-hundred fifteen adult drinkers (21 to 35 years of age, 72% male, 66% self-identified as White) completed a baseline assessment of alcohol use frequency and then smartphone reports of alcohol craving intensity six times a day across 10 days. Sleep timing was also recorded each morning of the 10-day period. Multilevel cosinor analysis was used to test the presence of a 24-h rhythm and to estimate acrophase and amplitude.ResultsMultilevel cosinor analysis revealed a 24-h rhythm in alcohol craving. Individual differences in sleep timing or sleep duration did not predict rhythm acrophase or amplitude. However, alcohol use frequency moderated this rhythm wherein individuals who used alcohol more frequently in the 30 days prior to beginning the study had higher mean levels of craving and greater rhythm amplitudes (i.e., greater rhythmic fluctuations). Associations did not vary by sex or racial identity.ConclusionsResults show that alcohol craving exhibits a systematic rhythm over the course of the 24 h and that the frequency of alcohol use may be relevant to the shape of this rhythm. Consideration of daily rhythms in alcohol craving may further our understanding of the mechanisms that drive alcohol use.
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Project description:Sleep and feeding patterns lack strong daily rhythms during early life. As diurnal animals mature, feeding is consolidated to the day and sleep to the night. In Drosophila, circadian sleep patterns are initiated with formation of a circuit connecting the central clock to arousal output neurons; emergence of circadian sleep also enables long-term memory (LTM). However, the cues that trigger the development of this clock-arousal circuit are unknown. Here, we identify a role for nutritional status in driving sleep-wake rhythm development in Drosophila larvae. We find that in the 2nd instar larval period (L2), sleep and feeding are spread across the day; these behaviors become organized into daily patterns by the 3rd instar larval stage (L3). Forcing mature (L3) animals to adopt immature (L2) feeding strategies disrupts sleep-wake rhythms and the ability to exhibit LTM. In addition, the development of the clock (DN1a)-arousal (Dh44) circuit itself is influenced by the larval nutritional environment. Finally, we demonstrate that larval arousal Dh44 neurons act through glucose metabolic genes to drive onset of daily sleep-wake rhythms. Together, our data suggest that changes to energetic demands in developing organisms trigger the formation of sleep-circadian circuits and behaviors.
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Project description:Sleep and feeding patterns lack a clear daily rhythm during early life. As diurnal animals mature, feeding is consolidated to the day and sleep to the night. Circadian sleep patterns begin with formation of a circuit connecting the central clock to arousal output neurons; emergence of circadian sleep also enables long-term memory (LTM). However, the cues that trigger the development of this clock-arousal circuit are unknown. Here, we identify a role for nutritional status in driving sleep-wake rhythm development in Drosophila larvae. We find that in the 2nd instar (L2) period, sleep and feeding are spread across the day; these behaviors become organized into daily patterns by L3. Forcing mature (L3) animals to adopt immature (L2) feeding strategies disrupts sleep-wake rhythms and the ability to exhibit LTM. In addition, the development of the clock (DN1a)-arousal (Dh44) circuit itself is influenced by the larval nutritional environment. Finally, we demonstrate that larval arousal Dh44 neurons act through glucose metabolic genes to drive onset of daily sleep-wake rhythms. Together, our data suggest that changes to energetic demands in developing organisms triggers the formation of sleep-circadian circuits and behaviors.
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Project description:BackgroundAlthough earlier studies have demonstrated that circadian rhythm sleep-wake disorders (CRSWD) are more prevalent in visually impaired individuals, the actual prevalence of CRSWD and insomnia among the visually impaired Japanese population remains unclear. The aim of this cross-sectional, telephone-based study was to estimate the prevalence of CRSWD and insomnia, and explore factors associated with CRSWD and insomnia among visually impaired Japanese individuals.MethodsA nationwide telephone survey was conducted among visually-impaired individuals through local branches of the Japan Federation of the Blind. In total, 157 visually impaired individuals were eligible for this study. Demographic information and information about visual impairments, lifestyle, and sleep patterns were assessed using questionnaires and subsequent telephone interviews. CRSWD and insomnia were defined according to the International Classification of Sleep Disorders-Third Edition criteria.ResultsThe prevalence of CRSWD in visually impaired individuals was 33.1%. Among those with CRSWD, a non-24-h/irregular sleep-wake rhythm type was the most frequently observed (26.8%), followed by an advanced sleep-wake phase type and a delayed sleep-wake phase type (3.8 and 2.5%, respectively). Furthermore, 28.7% of the visually impaired individuals were found to have insomnia. In the visually impaired individuals, the absence of light perception, unemployment, living alone, and use of hypnotics were significantly associated with CRSWD, whereas only the use of hypnotics was extracted as a marginally associated factor of insomnia.ConclusionsCRSWD and insomnia were highly prevalent in visually impaired Japanese individuals. The presence of CRSWD among the visually impaired individuals was associated with a lack of light perception and/or social zeitgebers.
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Project description:BackgroundIndividuals with typical circadian rhythm sleep-wake disorders (CRSWDs) have a habitual sleep timing that is desynchronized from social time schedules. However, it is possible to willfully force synchronisation against circadian-driven sleepiness, which causes other sleep problems. This pathology is distinguishable from typical CRSWDs and is referred to here as latent CRSWD (LCRSWD). Conventional diagnostic methods for typical CRSWDs are insufficient for detecting LCRSWD because sufferers have an apparently normal habitual sleep timing.MethodsWe first evaluated the reliability of circadian phase estimation based on clock gene expression using hair follicles collected at three time points without sleep interruption. Next, to identify detection criteria for LCRSWD, we compared circadian and sleep parameters according to estimated circadian phases, at the group and individual level, between subjects with low and high Pittsburgh Sleep Quality Index (PSQI) scores. To validate the reliability of identified detection criteria, we investigated whether the same subjects could be reproducibly identified at a later date and whether circadian amelioration resulted in sleep improvement.FindingsWe successfully validated the reliability of circadian phase estimation at three time points and identified potential detection criteria for individuals with LCRSWD attributed to delayed circadian-driven sleepiness. In particular, a criterion based on the interval between the times of the estimated circadian phase of clock gene expression and getting out of bed on work or school days was promising. We also successfully confirmed the reproducibility of candidate screening and sleep improvement by circadian amelioration, supporting the reliability of the detection criteria.InterpretationAlthough several limitations remain, our present study demonstrates a promising prototype of a detection method for LCRSWD attributed to delayed circadian-driven sleepiness. More extensive trials are needed to further validate this method.FundingThis study was supported mainly by JSPS, Japan.
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Project description:BackgroundShort sleep duration is a contributor to cardiovascular disease (CVD) events and mortality. Short sleep duration is associated with an increased risk of high clinic blood pressure (BP). BP measured outside the clinic using 24-h ambulatory blood pressure monitoring (ABPM) is a better predictor of an individual's CVD risk. We examined the association between objectively-assessed sleep duration and 24-h ambulatory blood pressure (ABP).MethodsA total of 893 working adults underwent sleep and ABPM. Participants were fitted with an ABPM device, and measures were taken at 28-30 min intervals. Objective sleep duration, and times of wakefulness and sleep during the 24-h ABPM period were derived from wrist-worn actigraphy. Linear regression, adjusted for age, sex, race/ethnicity, body mass index, smoking status, and diabetes were conducted on the relationship between sleep duration and the ABP measures.ResultsMean age of participants (final n = 729, 59.5% female, 11.9% Hispanic) was 45.2 ± 10.4 y. Mean actigraphy-derived sleep duration was 6.8 ± 1.2 h. Sleep duration <6 h was associated with a 1.73 mmHg higher 24-h systolic BP (p = 0.031) and 2.17 mmHg higher 24-h diastolic BP (p < 0.001). Shorter sleep duration was not associated with mean awake or asleep systolic BP (p = 0.89 and p = 0.92) or mean awake or asleep diastolic BP (p = 0.30 and p = 0.74).ConclusionsTo our knowledge, this is the largest study conducted which assessed sleep duration objectively while measuring 24-h ABP. Shorter sleep duration is associated with higher 24-h BP and potentially cardiovascular risk.
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