Gene/Protein Disease Symptom Drug Enzyme Compound
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 1,062 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Association of snoring and cognitive function was studied in 46 habitually snoring men ages 41-52 years, and 60 occasionally or never-snoring control male subjects of the same age group. Sleep recordings with monitoring of apneas and hypopneas were made with the static-charge sensitive bed method. Blood oxygen saturation was measured with an oximeter and the snoring sounds were recorded with a microphone after clinical and neuropsychological assessment. A questionnaire with items on excessive daytime somnolence (EDS), sleep, and snoring quality was also used. EDS (as measured by items on the questionnaire) associated with tests requiring concentration, memory retention, and verbal and spatial skills in the habitual snorers group. The number of oxygen desaturation episodes exceeding 4% associated with defective delayed Recall of Logical Stories of the Wechsler Memory Scale and with spatial orientation (Clock test) in the habitual snorers' group even after adjusting for age and obesity.
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PMID:Cognitive function in middle-aged snorers and controls: role of excessive daytime somnolence and sleep-related hypoxic events. 322 26

Retinoic acid induced 1 ( RAI1 ) encodes a dosage-sensitive gene that when haploinsufficient results in Smith-Magenis syndrome (SMS) and when overexpressed results in Potocki-Lupski syndrome (PTLS). Phenotypic and molecular evidence illustrates that haploinsufficiency of RAI1 disrupts circadian rhythm through the dysregulation of the master circadian regulator, circadian locomotor output cycles kaput ( CLOCK) , and other core circadian components, contributing to prominent sleep disturbances in SMS. However, the phenotypic and molecular characterization of sleep features in PTLS has not been elucidated. Using the Pittsburgh Sleep Quality Index (PSQI), caregivers of 15 school-aged children with PTLS reported difficulties in initiating sleep. Indeed, more than 70% of individuals manifested moderate to severe sleep latency, as defined by the PSQI. Moreover, these individuals manifested difficulties in sleep maintenance, with middle of the night and early morning awakenings. When assessing daytime sleepiness through the Epworth Sleepiness Scale, approximately 21% of the individuals manifested excessive daytime somnolence. This indicates that mild dyssomnia characterizes the majority of the sleep phenotype, with occasionally problematic daytime somnolence, a phenotype different than that expressed by individuals with SMS, where daytime sleepiness is a chronic problem. Gene expression analysis of the core circadian machinery in the hypothalamus of the PTLS mouse model ( Rai1 -Tg) found significant dysregulation of the transcriptional activators, Clock and Arntl , and the transcriptional repressors, Per1-3 and Cry1/2 , during both light and dark phases. These findings suggest a partial loss of circadian entrainment typically evoked by environmental photic cues. Examination of circadian clock gene expression in the Rai1- Tg mouse heart, liver, and kidney found unchanged expression of Clock and most of its downstream targets during both light and dark phases, suggesting an asynchronized circadian rhythm. Furthermore, examination of circadian gene expression in synchronized PTLS lymphoblasts revealed reduced transcripts of the Period ( PER1-3 ) family and normal expression of CRY1/2 . The finding that central circadian gene expression was altered while many peripheral circadian components were intact suggests a tissue-specific circadian uncoupling of the circadian machinery due to Rai1 overexpression. Overall, our results demonstrate that overexpression of RAI1 results in sleep deficiencies in individuals with PTLS due to a lack of properly regulated circadian machinery gene expression and highlight the importance of evaluating sleep concerns in individuals with PTLS.
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PMID:RAI1 Overexpression Promotes Altered Circadian Gene Expression and Dyssomnia in Potocki-Lupski Syndrome. 2879 7