Phase advance of circadian rhythms in Smith-Magenis syndrome: A case study in an adult man

Neuroscience Letters

Volumn 585, Issue , 2015, Pages 144-148

  Kocher, Laurence ^a,d   Brun, Jocelyne ^b   Devillard, Françoise ^c   Azabou, Eric ^a,e   Claustrat, Bruno ^b,f  

^a CENTRE HOSPITALIER LYON SUD   (France)

^b HOSPICES CIVILS DE LYON   (France)

^c GRENOBLE UNIVERSITY HOSPITAL   (France)

^d INSERM   (France)

^e LABORATOIRE DES SCIENCES DU CLIMAT ET DE L ENVIRONNEMENT   (France)

^f STEM CELL AND BRAIN RESEARCH INSTITUTE   (France)

Author keywords

Circadian rhythms; Cortisol; Melatonin; Smith Magenis syndrome; Temperature

Indexed keywords

HORMONE; HYDROCORTISONE; MELATONIN; RISPERIDONE;

ADULT; ARTICLE; CASE REPORT; CIRCADIAN RHYTHM; CORE TEMPERATURE; FLUORESCENCE IN SITU HYBRIDIZATION; HORMONE RELEASE; HUMAN; HYDROCORTISONE BLOOD LEVEL; LIVER METABOLISM; MALE; PHENOTYPE; SLEEP WAKING CYCLE; SMITH MAGENIS SYNDROME; SUPRACHIASMATIC NUCLEUS; TEMPERATURE; ACTIMETRY; BLOOD; BODY TEMPERATURE; PATHOPHYSIOLOGY; SLEEP;

ACTIGRAPHY; ADULT; BODY TEMPERATURE; CIRCADIAN RHYTHM; HUMANS; HYDROCORTISONE; MALE; MELATONIN; SLEEP; SMITH-MAGENIS SYNDROME;

EID: 84918801534     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2014.11.038     Document Type: Article

References (27)

1. Greenberg F., Lewis R.A., Potocki L., Glaza D., Parke J., Killian J., Murphy M.A., Williamson D., Brown F., Dutton R., McCluggage C., Friedman E., Sulek M., Lupski J.R. Multidisciplinary clinical study of Smith-Magenis syndrome (deletion 17p11. 2). Am. J. Med. Genet. 1996, 62:247-254.
2. Smith A.C.M., Dykens E., Greenberg F. Sleep disturbances in Smith-Magenis syndrome (del 17 p11.2). Am. J. Med. Genet. 1998, 81:186-189.
3. De Leersnyder H., De Blois M.C., Claustrat B., Romana S., Albrecht U., von Kleist-Retzow J.C., Delobel B., Viot G., Lyonnet S., Vekemans M., Munnich A. Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome. J. Pediatr. 2001, 139:111-116.
4. Boone P.M., Reiter R.J., Glaze D.G., Tan D.X., Lupski J.R., Potocki L. Abnormal circadian rhythm of melatonin in Smith-Magenis syndrome patients with RAI1 point mutations. Am. J. Med. Gen. 2011, 155:2024-2027.
5. Greenberg F., Guzzetta V., Montes de Oca-Luna R., Magenis R.E., Smith A.C.M., Richter S.F., Kondo I., Dobyns W.B., Patel P.I., Lupski J.R. Molecular analysis of the Smith-Magenis syndrome: a possible contiguous gene syndrome associated with del(17)(p11.2). Am. J. Hum. Genet. 1991, 49:1207-1218.
6. Potocki L., Glaze D., Tan D.X., Park S.S., Kashork C.D., Shaffer L.G., Reiter R.J., Lupski J.R. Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome. J. Med. Genet. 2000, 37:428-433.
7. De Leersnyder H., De Blois M.C., Bresson J.L., Sidi D., Claustrat B., Munnich A. Inversion of the circadian melatonin rhythm in Smith-Magenis syndrome. Rev. Neurol. (Paris) 2003, 159(Suppl. 6):S21-S26.
8. De Leersnyder H. Inverted rhythm of melatonin secretion in Smith-Magenis syndrome: from symptoms to treatment. Trends Endocrinol. Metab. 2006, 17:291-298.
9. Boudreau E.A., Johnson K.P., Jackman A.R., Blancato J., Huising M., Bendavid C., Jones M., Chandrasekharappa S.C., Lewy A.J., Smith A.C.M., Magenis R.E. Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11. 2 deletion. Am. J. Med. Gen. Part A 2009, 149A:1382-1391.
10. Brun J., Chamba G., Khalfallah Y., Girard P., Boissy I., Bastuji H., Sassolas G., Claustrat B. Effect of modafinil on plasma melatonin cortisol and growth hormone rhythms, rectal temperature and performance in healthy subjects during a 36h sleep deprivation. J. Sleep Res. 1998, 7:105-114.
11. Mallo C., Zaidan R., Galy G., Vermeulen E., Brun J., Chazot G., Claustrat B. Pharmacokinetics of melatonin in man after intravenous infusion and bolus injection. Eur. J. Clin. Pharmacol. 1990, 38:297-301.
12. Harthé C., Claustrat B., Brun J., Chazot G. Direct radio immunoassay of 6 sulfatoxymelatonin in plasma with use of an iodinated trace. Clin. Chem. 1991, 37:536-539.
13. Faure C., Nemoz C., Claustrat B. A graphical and statistical method for investigation of time series in chronobiology according to the cosinor procedure. Compt. Biol. Med. 1990, 20:319-329.
14. Sharpley A.L., Bhagwagar Z., Hafizi S., Whale W.R., Gijsman H.J., Cowen P.J. Risperidone augmentation decreases rapid eye movement sleep and decreases wake in treatment-resistant depressed patients. J. Clin. Psychiatry 2003, 64:192-196.
15. Gimenez S., Clos S., Romero S., Grasa E., Morte A., Barbanoj M.J. Effects of olanzapine, risperidone and haloperidol on sleep after a single oral morning dose in healthy volunteers. Psychopharmacology 2007, 190:507-516.
16. Dubocovich M.L. Melatonin receptors: role on sleep and circadian rhythm regulation. Sleep Med. Suppl. 2007, 3:34-42.
17. Dubocovich M.L., Yun K., Al-Ghoul V.V.M., Benloucif S., Masana M.I. Selective MT2 melatonin receptor antagonists block melatonin-mediated phase advances of circadian rhythms. FASEB J. 1998, 12:1211-1220.
18. Van den Heuvel C.J., Kennaway D.J., Dawson D. Thermoregulatory and soporific effects of very low dose melatonin injection. Am. J. Physiol. 1999, 276:E249-54.
19. Deacon S., English J., Arendt J. Acute phase-shifting effects of melatonin associated with suppression of core body temperature in humans. Neurosci. Lett. 1994, 178:32-34.
20. Lewy A.J., Ahmed S., Jackson J.M., Sack R.L. Melatonin shifts human circadian rhythms according to a phase-response curve. Chronobiol. Int. 1992, 5:380-392.
21. Zaidan R., Geoffriau M., Brun J., Taillard J., Bureau C., Chazot G., Claustrat B. Melatonin is able to influence its secretion in humans: description of a phase-response curve. Neuroendocrinology 1994, 60:105-112.
22. Lewy A.J., Bauer V.K., Ahmed S., Thomas K.H., Cutler N.L., Singer C.M., Moffit M.T., Sack R.L. The human phase response curve (PRC) to melatonin is about 12h out of phase with the PRC to light. Chronobiol. Int. 1998, 15:71-83.
23. Burgess H.J., Revell V.L., Molina T.A., Eastman C.I. Human phase response curves to three days of daily melatonin: 0.5mg versus 3.0mg. J. Clin. Endocrinol. Metab. 2010, 95:3325-3331.
24. Reinberg A. Circadian rhythms in effects of hypnotics and sleep inducers. Int. J. Pharmacol. Res. 1986, 6:33-44.
25. Demas G.E., Polacek K.M., Durazzo A., Jasnow A.M. Adrenal hormones mediate melatonin-induced increases in aggression in male siberian hamsters (Phodopus sungorus). Horm. Behav. 2004, 46:582-591.
26. Jasnow A.M., Huhman K.L., Bartness T.J., Demas G.E. Short days and exogenous melatonin increase aggression of male syrian hamsters (Mesocricetus auratus). Horm. Behav. 2002, 42:13-20.
27. Rios E.R., Venancio E.T., Rocha N.F., Woods D.J., Vasconcelos S., Macedo D., Sousa F.C., Fonteles M.M. Melatonin: pharmacological aspects and clinical trends. Int. J. Neurosci. 2010, 120:583-589.