Jul 2026· Vestnik of North-Eastern Federal University. Medical Sciences· pp. 102-123· 0 citations· 92 references
TL;DR
A review of currently published scientific studies describing genes and genetic variants directly involved in the genetic regulation of circadian rhythms and the sleep/wake cycle, as well as aberrantly expressed genes and SNVs, potentially biomarkers of sleep disorders, which may simplify the process of diagnosing this type of disorders are provided.
Abstract
Sleep disorders are a group of pathologies that are difficult to differentiate and diagnose due to the presence of many features. It is noted that sleep disorders have symptomatic similarities with each other and with other diseases, and are also comorbid conditions, which may lead to difficulties in clarifying the diagnosis. Thanks to genome-wide association studies (GWAS) conducted in the previous 20 years, it was found that sleep and its disorders are genetically determined, partially inherited and polygenic. Circadian rhythms are an important mechanism for regulating the sleep/wake cycle, but they are also genetically determined. Circadian rhythms are regulated by clock genes, whose expression follows the circadian rhythm. Due to the above reasons, there is an urgent need to search for biomarkers capable of providing accurate information for the subsequent diagnosis of sleep disorders. This paper provides a review of currently published scientific studies describing genes and genetic variants (SNVs) directly involved in the genetic regulation of circadian rhythms and the sleep/wake cycle, as well as aberrantly expressed genes and SNVs, potentially biomarkers of sleep disorders, which may simplify the process of diagnosing this type of disorders.
PURPOSE OF REVIEW
Improved access to genetic testing is accelerating identification of variants underlying common sleep traits and rare Mendelian disorders. This review highlights advances over the past two years.
RECENT FINDINGS
Family-based studies continue to uncover genes governing sleep timing and amount. Advanc...
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INTRODUCTION
Alzheimer's Disease (AD) is a progressive neurological disorder characterized by unusual behavior, memory deterioration, and a decline in cognitive abilities. A growing body of research indicates that circadian rhythm disturbances play a crucial role in the pathophysiology of AD, impacting both molecular p...
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Seizures in several epilepsy syndromes cluster within narrow windows of the sleep–wake cycle, even though the underlying molecular defects are present continuously. This narrative review asks how constitutive molecular pathologies give rise to state-dependent seizures. We integrated epilepsy genetics with sleep neuroph...
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