Molecular Genetics of Sleep Disorders

Abstract

Common sleep disorders include narcolepsy, restless legs syndrome, obstructive sleep apnea syndrome, circadian sleep disorders and parasomnias. They are influenced by genes and several research groups to attempt to identify susceptibility genes of sleep disorders through the sequential analysis of genetic linkage and association. Strong evidence has now emerged for the presence of genes influencing sleep disorders at several chromosomal loci and for at least one of these, there is evidence implicating specific genes. This review highlights the genetic contribution to sleep disorders and current molecular genetic researches aimed at identifying susceptibility genes for sleep disorders. Key Concepts: Sleep disorders result in sleep deprivation and interfere with work, driving and social activities. Management of sleep disturbances is important to inhibit secondary to mental, medical, or substance abuse disorders. Genetic factors are important in sleep disorders. The association and linkage studies of sleep disorders identify genetic causes of heritable sleep disorder. Molecular genetic researches should be aimed to identify susceptibility genes for sleep disorders. Molecular advances in narcolepsy (NRCLP), restless legs syndrome (RLS), obstructive sleep apnea syndrome (OSAS), circadian sleep disorders (CSD) and parasomnias will help to set the research agendas for future studies to follow. Gene‐mapping studies may help us to understand the biological basis of normal sleep variation, in addition to sleep disorders.

Sleep apnea in fragile X premutation carriers with and without FXTAS

“…Until this report, sleep apnea had not been studied in relation to FXTAS or the fragile X premutation. However, there is much ongoing research regarding correlations between molecular genetics and sleep disorders, particularly with regard to candidate and susceptibility genes that are imperative to early diagnosis and appropriate treatment [Caylak, 2009; Caylak, 2011]. For instance, genetic research regarding narcolepsy and restless legs syndrome have identified chromosomal regions as well as candidate genes linked to these disorders.…”

Urinary proteomics in obstructive sleep apnoea and obesity

“…Understanding the influence of OSA on urinary profiles is important as molecular research in OSA may increase our understanding of complex sleep mechanisms and provide a platform for future therapeutic interventions . For example, in recent years, genomic studies have been performed to identify susceptibility and candidate genes for OSA .…”