Endogenous melatonin and sleep in individuals with Rare Genetic Neurodevelopmental Disorders (RGND): A systematic review

Woodford, Emma; McLay, Laurie; France, Karyn G.; Blampied, Neville M.; Gibbs, Rosina; Swan, Catherine E.; Eggleston, Matt

doi:10.1016/j.smrv.2021.101433

Cited by 14 publications

(12 citation statements)

References 56 publications

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“…The study also reported a marked increase in melatonin secretion in women using oral contraceptives, particularly synthetic progesterone, as well as melatonin treatment could be essential in enhancing human chronic gonadotropin-stimulated progesterone secretion in human granulosa cells [73]. In contrast, in a low estrogen environment and premenopausal women, oophorectomy contributes to substantially increased melatonin secretion [74].…”

Section: Menstrual Cyclementioning

confidence: 85%

“…Further, Gentry et al [75] add that treating estrogen was found to significantly reduce melatonin synthesis in rat pinealocytes, with reduced melatonin receptors (MTI) being further seen in ovaries in rats [72,75]. Patients with PMDD (premenstrual dysphoric disorder) have been found to have reduced serotonin levels with changes in timing and the amount of secreted nocturnal melatonin [74]. This finding, however, raises the question of how reduced serotonin, which is the precursor of melatonin synthesis, can change the production of melatonin in the pineal gland Pevet et al [66].…”

Section: Menstrual Cyclementioning

confidence: 99%

“…Studies conducted by Hardeland [76] shows that beer and wine with identical amounts of melatonin can potentially influence melatonin level in body fluids. Nonetheless, the influence of chronic or acute consumption of alcohol on levels of melatonin is inconsistent [74,76]. Social drinking, such as 10-100g of ethanol daily, was found to decrease levels of melatonin in the blood [74].…”

Section: Alcoholmentioning

confidence: 99%

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Characteristic, Synthesis, and Non-Photic Regulation of Endogenous Melatonin

Albreiki¹

2022

Melatonin - Recent Updates

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Several researchers have confirmed that the melatonin hormone is significant to the body’s circadian rhythm, hence, the need to explore the connection between the two aspects. The circadian rhythm is a natural endogenous process that controls essential body functions as it affects hormone release, body temperature, sleep patterns, and eating habits. In that view, the circadian rhythm relies on melatonin to synchronize the night and day cycles. Melatonin plays a significant role in controlling the circadian rhythm by facilitating quality sleep at night and alertness during the day. In effect, understanding the acute non-image-forming visual effects of melatonin will help derive ways to ensure the circadian rhythms operate efficiently for healthy body functions.

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Section: Menstrual Cyclementioning

confidence: 85%

Section: Menstrual Cyclementioning

confidence: 99%

Section: Alcoholmentioning

confidence: 99%

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Characteristic, Synthesis, and Non-Photic Regulation of Endogenous Melatonin

Albreiki¹

2022

Melatonin - Recent Updates

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“…Sleep issues are common in patients with WAGR spectrum, with abnormal sleep length the most common issue reported by participants. Mutations in PAX6 have previously been associated with problems initiating and maintaining sleep ( 66 ). Smaller pineal size, lower melatonin secretion, and greater sleep disturbances has also been found in patients with WAGR and isolated aniridia with PAX6 deletions compared to healthy control patients, suggesting that PAX6 is involved in pineal development and circadian regulation ( 67 ).…”

Section: Discussionmentioning

confidence: 99%

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management

Duffy

Trout²,

Gunckle³

et al. 2021

Front. Pediatr.

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WAGR syndrome is a rare genetic disorder characterized by Wilms tumor, Aniridia, Genitourinary anomalies, and Range of developmental delays. In addition to the classic features, patients affected by WAGR syndrome can develop obesity and kidney failure, and a wide variety of non-classical manifestations have also been described. This suggests that a broader phenotypic spectrum beyond the classic syndrome exists and here we demonstrate that spectrum using data from the WAGR Syndrome Patient Registry. In the present study, we collected information from 91 individuals enrolled in the registry to explore self-reported health issues in this patient population. A wide variety of common clinical issues not classically associated with the disorder were found, prompting the redefinition from WAGR syndrome to WAGR spectrum disorder to incorporate the phenotypic variations that occur. A comprehensive care management approach is needed to address the wide range of clinical issues and we propose a care model for patients affected by WAGR spectrum disorder. Further research is needed to solidify the breath of the phenotype and confirm the observations in this study to advance individualized patient care in this population.

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“…One strategy to suppress the morning level of melatonin in SMS includes administration of a β 1 -adrenergic antagonist (24). Melatonin supplementation is also a core strategy to realign the circadian system and improve sleep and cognitive outcome measures (25). Melatonin supplementation for realignment (i.e., phase shifting) typically occurs at lower doses of ≤1 mg of immediate-release formulations given several hours before bedtime (26), whereas doses greater than 1 mg of extended-release versions just before bedtime are used for the soporific effect (27).…”

Section: Mood Disordersmentioning

confidence: 99%

Circadian disruption and human health

Fishbein¹,

Knutson²,

Zee³

2021

Journal of Clinical Investigation

197

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Circadian (circa, "about," and diem, "day") rhythms are endogenous oscillations with an approximately 24-hour cycle. Circadian rhythms in physiology and behavior are organized by a central "master" clock, the suprachiasmatic nucleus (SCN) located in the anterior hypothalamus, that coordinates alignment between external synchronizing agents with circadian clocks in other brain regions, as well as in peripheral tissues. Circadian rhythms are modulated by endogenous (genetic, physiological) as well as environmental (light) and behavioral (activity, feeding) factors. In this Review, we use "circadian disruption" as a nonspecific umbrella term to describe a disturbance, dysregulation, or problem that negatively affects circadian function, but as Vetter has pointed out, there is a need for clearer terminology and quantification of circadian disruption (1). It is becoming increasingly clear that circadian disruption in humans can result in broad and significant consequences for mental and physical health (2, 3). Furthermore, changes in circadian function are often accompanied by sleep-wake disturbances, which also contribute to poor health outcomes. The interrelationship between circadian rhythms and human disease can create a vicious cycle between disease expression and circadian disruption, as exemplified in immunologic (4, 5), cardiometabolic (6), neurodegenerative, and psychiatric disorders (7). General mechanisms of circadian disruptionIn humans, measures of circadian disruption include the phase (timing), relationship between internal-internal or internal-external rhythms (alignment), the period and amplitude of circadian rhythms. Disturbance of circadian phase alignment and amplitude are the most common measures that have been associated with adverse health consequences. As outlined in Figure 1, circadian disruption can occur at multiple levels, from intrinsic changes at the molecular, cellular, tissue, or system level to misalignment among different organizational levels and/or with behavioral and environmental cycles. The "molecular circadian clock" refers to genes that maintain autoregulatory feedback loops in which oscillating outputs regulate their own expression (circadian locomotor output cycles kaput [CLOCK], brain and muscle ARNTlike [BMAL], period [PER], rev-erb/nuclear receptor subfamily 1, group D [NR1D], and cryptochrome [CRY]; ref. 4). Biomarkers of circadian rhythm and circadian disruptionAlthough the SCN rhythm cannot be directly measured in humans, the timing of melatonin onset and amplitude measured in plasma or saliva, or the melatonin metabolite 6-sulfatoxymelatonin in urine, are gold standard biomarkers of circadian rhythms. The collection of 24-hour urine samples is particularly useful to assess circadian amplitude of melatonin in special populations, such as pediatric patients in whom blood or salivary samples might be difficult to obtain (8), and has been shown to be a useful treatment-responsive biomarker of circadian disruption in neurologic diseases, such as Alzheimer's disease (AD) (9)...

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Endogenous melatonin and sleep in individuals with Rare Genetic Neurodevelopmental Disorders (RGND): A systematic review

Cited by 14 publications

References 56 publications

Characteristic, Synthesis, and Non-Photic Regulation of Endogenous Melatonin

Characteristic, Synthesis, and Non-Photic Regulation of Endogenous Melatonin

Results From the WAGR Syndrome Patient Registry: Characterization of WAGR Spectrum and Recommendations for Care Management

Circadian disruption and human health

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