title: Case study: differences in human Per2 gene expression, body temperature, cortisol, and melatonin parameters in remission and hypersomnia in a patient with recurrent hypersomnia.
abstract: Recurrent hypersomnia is characterized by recurring episodes of hypersomnia of 18 h or more per day lasting from several days to several weeks. We report the case of a 17-year-old male subject with recurrent hypersomnia who displayed change in the 24 h expression of the hPer2 gene in whole red and white blood cells as well as markers [deep body temperature (DBT) and cortisol] of the circadian time structure during an episode of hypersomnia compared to remission. The patient was studied for the temporal characteristics of hPer2 gene, DBT, cortisol, and melatonin expression during a single 24 h span during an episode of hypersomnia and again during a single 24 h span in the following remission. The approximation of a 24 h cosine curve to the time series data revealed circadian rhythmicity (P < 0.05) only in DBT in the two stages of the disease with differences in amplitude and acrophase. Cortisol circadian rhythmicity was detected during remission, but not during hypersomnia. Statistically significant differences were detected by ANOVA between the remission and active disease stages in the 24 h mean level of hPer2 gene expression (P < 0.05), cortisol (P < 0.05), and DBT (P < 0.05). The findings of this case study suggest the expression of hPer2 gene and alterations in circadian time structure might play an important role in the pathogenesis of recurrent hypersomnia, although additional study is required.
authors.affiliation: Department of Child Development, Kumamoto University School of Medicine, Kumamoto, Japan. tomo@kaiju.medic.kumamoto-u.ac.jp
authors.forename: Akemi
authors.initials: A
authors.lastname: Tomoda
authors.forename: Takako
authors.initials: T
authors.lastname: Joudoi
authors.forename: Junko
authors.initials: J
authors.lastname: Kawatani
authors.forename: Takafumi
authors.initials: T
authors.lastname: Ohmura
authors.forename: Akinobu
authors.initials: A
authors.lastname: Hamada
authors.forename: Shirou
authors.initials: S
authors.lastname: Tonooka
authors.forename: Teruhisa
authors.initials: T
authors.lastname: Miike
mesh_terms: D000293:Adolescent; D001831:Body Temperature; D002940:Circadian Rhythm / Q000235:genetics / Q000502:physiology; D006970:Disorders of Excessive Somnolence / Q000235:genetics* / Q000503:physiopathology*; D015870:Gene Expression; D006801:Humans; D006854:Hydrocortisone / Q000378:metabolism; D008297:Male; D008550:Melatonin / Q000378:metabolism; D009687:Nuclear Proteins; D056950:Period Circadian Proteins; D011506:Proteins / Q000235:genetics*; D012333:RNA, Messenger / Q000097:blood / Q000235:genetics; D012008:Recurrence; D014157:Transcription Factors
chemical_list: D009687:Nuclear Proteins; C421902:PER2 protein, human; D056950:Period Circadian Proteins; D011506:Proteins; D012333:RNA, Messenger; D014157:Transcription Factors; D008550:Melatonin; D006854:Hydrocortisone