Publication Cover
Chronobiology International
The Journal of Biological and Medical Rhythm Research
Volume 36, 2019 - Issue 4
203
Views
4
CrossRef citations to date
0
Altmetric
Original Articles

Rhythmic changes in Fabry disease: Inversion and non-oscillatory pattern in 6-sulfatoxymelatonin daily profile

ORCID Icon, ORCID Icon, ORCID Icon & ORCID Icon
Pages 470-480 | Received 20 Nov 2018, Accepted 14 Dec 2018, Published online: 07 Jan 2019

References

  • Alegra T, Vairo F, de Souza MV, Krug BC, Schwartz IV. 2012. Enzyme replacement therapy for Fabry disease: a systematic review and meta-analysis. Genet Mol Biol. 35(4(suppl)):947–54. Cited in PubMed; PMID: 23413206.
  • Anderson W. 1898. A case of “angeiokeratoma”. Br J Dermatol. 10:113–17.
  • Arends M, Wanner C, Hughes D, Mehta A, Oder D, Watkinson OT, Elliott PM, Linthorst GE, Wijburg FA, Biegstraaten M, et al. 2017. Characterization of classical and nonclassical Fabry disease: a multicenter study. Jasn. 28(5):1631–41. doi:10.1681/ASN.2016090964. Cited in PubMed; PMID: 27979989.
  • Arendt J, Minors DJ, Waterhouse JM. 1989. Basic concepts and implications. In: Arendt J, Minors DJ, Waterhouse JM, editors. Biological rhythms in clinical practice. London (UK): Wright, Butterworth & Co; p. 3–7.
  • Ávila Moraes C, Cambras T, Diez-Noguera A, Schimitt R, Dantas G, Levandovski R, Hidalgo MP. 2013. A new chronobiological approach to discriminate between acute and chronic depression using peripheral temperature, rest-activity, and light exposure parameters. BMC Psychiatry. 13:77. doi:10.1186/1471-244X-13-77. Cited in PubMed; PMID: 23510455.
  • Arendt J, Skene DJ. 2005. Melatonin as a chronobiotic. Sleep Med Rev. 9(1):25–39. doi:10.1016/j.smrv.2004.05.002. Cited in PubMed; PMID: 15649736.
  • Benedito-Silva AA, Menna-Barreto L, Alam MF, Rotenberg L, Moreira LFSM, Menezes AAL, Silva HP, Marques N. 1998. Latitude and social habits as determinants of the distribution of morning and evening types in Brazil. Biol Rhythm Res Spec Issue. 29: 591–97. doi:10.1076/brhm.29.5.591.4823
  • Benloucif S, Guico MJ, Reid KJ, Wolfe LF, L’hermite-Balériaux M, Zee PC. 2005. Stability of melatonin and temperature as circadian phase markers and their relation to sleep times in humans. J Biol Rhythms. 20(2):178–88. doi:10.1177/0748730404273983. Cited in PubMed; PMID: 15834114.
  • Berson DM, Dunn FA, Takao M. 2002. Phototransduction by retinal ganglion cells that set the circadian clock. Science. 295(5557):1070–73. doi:10.1126/science.1067262. Cited in PubMed; PMID: 11834835.
  • Bertolazi AN, Fagondes SC, Hoff LS, Dallagasperina PV, Menna-Barreto SS, Johns MW. 2009. Validação da escala de sonolência de Epworth em português para uso no Brasil. J Bras Pneumol. 35(9):877–83.
  • Bojkowskl CJ, Arendt J, Shih CS, Markey SP. 1987. Melatonin secretion in humans assessed by measuring its metabolite, 6-sulfatoxymelatonin. Clin Chem. 33(8):1343–48. Cited in PubMed; PMID: 3608151.
  • Borbély AA. 1982. A two process model of sleep regulation. Hum Neurobiol. 1(3):195–204. Cited in PubMed; PMID: 7185792.
  • Brown RP, Kocsis JH, Caroff S, Amsterdam J, Winokur A, Stokes P, Frazer A. 1987. Depressed mood and reality disturbance correlate with decreased nocturnal melatonin in depressed patients. Acta Psychiatr Scand. 76(3):272–75. doi:10.1111/j.1600-0447.1987.tb02895.x. Cited in PubMed; PMID: 3673654.
  • Campos LA, Cipolla-Neto J, Amaral FG, Michelini LC, Bader M, Baltatu OC. 2013. The angiotensin-melatonin axis. Int J Hypertens. 2013:7. Article ID 521783. doi:10.1155/2013/521783.
  • Cipolla-Neto J, Amaral FG, Afeche SC, Tan DX, Reiter RJ. 2014. Melatonin, energy metabolism, and obesity: a review. J Pineal Res. 56(4):371–81. doi:10.1111/jpi.12137. Cited in PubMed; PMID: 24654916.
  • Cipolla-Neto J, Do Amaral FG. 2018. Melatonin as a hormone: new physiological and clinical insights. Endocr Rev. doi:10.1210/er.2018-00084. Cited in PubMed; PMID: 30215696.
  • Claustrat B, Brun J, Chazot G. 2005. The basic physiology and pathophysiology of melatonin. Sleep Med Rev. 9(1):11–24. doi:10.1016/j.smrv.2004.08.001. Cited in PubMed; PMID: 15649735.
  • Cole AL, Lee PJ, Hughes DA, Deegan PB, Waldek S, Lachmann RH. 2007. Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis. 30(6):943–51. doi:10.1007/s10545-007-0708-6. Cited in PubMed; PMID: 17994284.
  • Davey PG. 2014. Fabry disease: a survey of visual and ocular symptoms. Clin Ophthalmol. 8:1555–60. doi:10.2147/OPTH.S66748. Cited in PubMed; PMID: 25170250.
  • Desnick RJ, Ioannou YA, Eng CM. 2001. Alpha-Galactosidase A deficiency: Fabry disease. In: Scriver C, Beaudet A, editors. The metabolic bases of inherited disease. 8th ed. Vol. 3. New York, NY: McGraw-Hill; p. 3733–74.
  • Desnick RJ, Brady RO. 2004. Fabry disease in childhood. J Pediatr. 144(5 Suppl):S20–6.
  • Díez-Noguera A. 2013. Methods for serial analysis of long time series in the study of biological rhythms. J Circadian Rhythms. 11(1):7. doi:10.1186/1740-3391-11-7. Cited in PubMed; PMID: 23867052.
  • Dijk DJ, Archer SN. 2009. Light, sleep, and circadian rhythms: together again. PLoS Biol. 7(6):e1000145. doi:10.1371/journal.pbio.1000145. Cited in PubMed; PMID: 19547745.
  • Duarte LL, Menna-Barreto L, Miguel MA, Louzada F, Araújo J, Alam M, Areas R, Pedrazzoli M. 2014. Chronotype ontogeny related to gender. Braz J Med Biol Res. 47(4):316–20. doi:10.1590/1414-431X20143001. Cited in PubMed; PMID: 24714814.
  • Duning T, Deppe M, Keller S, Schiffbauer H, Stypmann J, Böntert M, Schaefer R, Young P. 2009. Excessive daytime sleepiness is a common symptom in Fabry disease. Case Rep Neurol. 1(1):33–40. doi:10.1159/000226792. Cited in PubMed; PMID: 20847834.
  • Elmore SK, Betrus PA, Burr R. 1994. Light, social zeitgebers, and the sleep-wake cycle in the entrainment of human circadian rhythms. Res Nurs Health. 17(6):471–78. Cited in PubMed; PMID: 7972925.
  • Eng CM, Germain DP, Banikazemi M, Warnock DG, Wanner C, Hopkin RJ, Bultas J, Lee P, Sims K, Brodie SE, et al. Fabry disease: guidelines for the evaluation and management of multi-organ system involvement. 2006. Genet Med. 8(9):539–48. doi:10.109701.gim.0000237866.70357.c6. Cited in PubMed; PMID: 16980809.
  • Fabry J. 1898. Ein Beitrag zur Kenntnis der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae). Arch Dermatol Syph. 43:187–200.
  • Fischer D, Lombardi DA, Marucci-Wellman H, Roenneberg T. 2017. Chronotypes in the US – influence of age and sex. PLoS One. 12(6):e0178782. doi:10.1371/journal.pone.0178782. Cited in PubMed; PMID: 28636610.
  • Fleischer B. 1910. Uber eine eigenartige bisher nicht bekannte Hornhauttrubung [On an unusual thus far unknown type of corneal cloudiness]. Graefes Arch Ophthalmol. 77:136–40.
  • Follenius M, Weibel L, Brandenberger G. 1995. Distinct modes of melatonin secretion in normal men. J Pineal Res. 18(3):135–40.
  • Gradisar M, Lack L. 2004. Relationships between the circadian rhythms of finger temperature, core temperature, sleep latency, and subjective sleepiness. J Biol Rhythms. 19(2):157–63. doi:10.1177/0748730403261560. Cited in PubMed; PMID: 15038855.
  • Grewal RP. 1993. Psychiatric disorders in patients with Fabry’s disease. Int J Psychiatry Med. 23(3):307–12. doi:10.2190/JKFW-3WXK-QA7N-BYLN. Cited in PubMed; PMID: 8270359.
  • Guerrero JM, Pozo D, Diaz-Rodriguez JL, Martinez-Cruz F, Vela-Campos F. 2006. Impairment of the melatonin rhythm in children with Sanfilippo syndrome. J Pineal Res. 40(2):192–93. doi:10.1111/j.1600-079X.2005.00294.x. Cited in PubMed; PMID: 16441557.
  • Heldermon CD, Hennig AK, Ohlemiller KK, Ogilvie JM, Herzog ED, Breidenbach A, Vogler C, Wozniak DF, Sands MS. 2007. Development of sensory, motor and behavioral deficits in the murine model of Sanfilippo syndrome type B. PLoS One. 2(8):e772. doi:10.1371/journal.pone.0000772. Cited in PubMed; PMID: 17712420.
  • Horne JA, Ostberg O. 1976. A self-assessment questionnaire to determine morningness-eveningness in human circadian rhythms. Int J Chronobiol. 4(2):97–110. Cited in PubMed; PMID: 1027738.
  • Johns MW. 1991. A new method for measuring daytime sleepiness: the Epworth Sleepiness Scale. Sleep. 14(6):540–45. Cited in PubMed; PMID: 1798888.
  • Kalmbach DA, Schneider LD, Cheung J, Bertrand SJ, Kariharan T, Pack AI, Gehrman PR. 2017. Genetic basis of chronotype in humans: insights from three landmark GWAS. Sleep. 40(2). doi:10.1093/sleep/zsw048. Cited in PubMed; PMID: 28364486.
  • Kennaway DJ, Lushington K, Dawson D, Lack L, van den Heuvel C, Rogers N. 1999. Urinary 6-sulfatoxymelatonin excretion and aging: new results and a critical review of the literature. J Pineal Res. 27(4):210–20. doi:10.1111/j.1600-079X.1999.tb00617.x. Cited in PubMed; PMID: 10551768.
  • Kopin IJ, Pare CM, Axelrod J, Weissbach H. 1961. The fate of melatonin in animals. J Biol Chem. 236:3072–75. Cited in PubMed; PMID: 14458327.
  • Korczak AL, Martynhak BJ, Pedrazzoli M, Brito AF, Louzada FM. 2008. Influence of chronotype and social zeitgebers on sleep/wake patterns. Braz J Med Biol Res. 41(10):914–19.
  • Lenhard W, Lenhard A. 2016. Calculation of effect sizes. Dettelbach (Germany): Psychometrica. https://www.psychometrica.de/effect_size.html.
  • Lidove O, Jaussaud R, Aractingi S. 2006. Dermatological and soft-tissue manifestations of Fabry disease: characteristics and response to enzyme replacement therapy. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis. Chapter 24.
  • Lushington K, Dawson D, Encel N, Lack L. 1996. Urinary 6-sulfatoxymelatonin cycle-to-cycle variability. Chronobiol Int. 13(6):411–21. Cited in PubMed; PMID: 8974187.
  • Mahlberg R, Tilmann A, Salewski L, Kunz D. 2006. Normative data on the daily profile of urinary 6-sulfatoxymelatonin in healthy subjects between the ages of 20 and 84. Psychoneuroendocrinology. 31(5):634–41. doi:10.1016/j.psyneuen.2006.01.009. Cited in PubMed; PMID: 16584848.
  • Mahowald MW. 2000. What is causing excessive daytime sleepiness? Evaluation to distinguish sleep deprivation from sleep disorders. Postgrad Med. 107(3):108–10, 15–8, 23. doi:10.3810/pgm.2000.03.932. Cited in PubMed; PMID: 10728139.
  • Mehta A, Widmer U. 2006. Natural history of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis. Chapter 19.
  • Mehta A, Clarke JT, Giugliani R, Elliott P, Linhart A, Beck M, Sunder-Plassmann G, FOS Investigators. 2009. Natural course of Fabry disease: changing pattern of causes of death in FOS – Fabry Outcome Survey. J Med Genet. 46(8):548–52. doi:10.1136/jmg.2008.065904. Cited in PubMed; PMID: 19473999.
  • Minneman KP, Wurtman RJ. 1976. The pharmacology of the pineal gland. Annu Rev Pharmacol Toxicol. 16:33–51. doi:10.1146/annurev.pa.16.040176.000341. Cited in PubMed; PMID: 180879.
  • Motabar O, Sidransky E, Goldin E, Zheng W. 2010. Fabry disease – current treatment and new drug development. Curr Chem Genomics. 4:50–56. doi:10.2174/1875397301004010050. Cited in PubMed; PMID: 21127742.
  • Mukaka MM. 2012. Statistics corner: a guide to appropriate use of correlation coefficient in medical research. Malawi Med J. 24(3):69–71. Cited in PubMed; PMID: 23638278.
  • Nakao S, Kodama C, Takenaka T, Tanaka A, Yasumoto Y, Yoshida A, Kanzaki T, Enriquez AL, Eng CM, Tanaka H, et al. 2003. Fabry disease: detection of undiagnosed hemodialysis patients and identification of a “renal variant” phenotype. Kidney Int. 64(3):801–07. doi:10.1046/j.1523-1755.2003.00160.x. Cited in PubMed; PMID: 12911529.
  • Nakao S, Takenaka T, Maeda M, Kodama C, Tanaka A, Tahara M, Yoshida A, Kuriyama M, Hayashibe H, Sakuraba H, et al. 1995. An atypical variant of Fabry’s disease in men with left ventricular hypertrophy. N Engl J Med. 333(5):288–93. doi:10.1056/NEJM199508033330504. Cited in PubMed; PMID: 7596372.
  • Reinberg A, Ashkenazi I. 2003. Concepts in human biological rhythms. Dialogues Clin Neurosci. 5(4):327–42. Cited in PubMed; PMID: 22033796.
  • Reiter RJ. 1991. Pineal melatonin: cell biology of its synthesis and of its physiological interactions. Endocr Rev. 12(2):151–80. doi:10.1210/edrv-12-2-151. Cited in PubMed; PMID: 1649044.
  • Reiter RJ. 1995. The pineal gland and melatonin in relation to aging: a summary of the theories and of the data. Exp Gerontol. 30(3–4):199–212. doi:10.1016/0531-5565(94)00045-5. Cited in PubMed; PMID: 7556503.
  • Sadeh A, Acebo C. 2002. The role of actigraphy in sleep medicine. Sleep Med Rev. 6(2):113–24. doi:10.1053/smrv.2001.0182. Cited in PubMed; PMID: 12531147.
  • Sarabia JA, Rol MA, Mendiola P, Madrid JA. 2008. Circadian rhythm of wrist temperature in normal-living subjects: a candidate of new index of the circadian system. Physiol Behav. 95(4):570–80. doi:10.1016/j.physbeh.2008.08.005. Cited in PubMed; PMID: 18761026.
  • Schiffmann R, Kopp JB, Austin HA 3rd, Sabnis S, Moore DF, Weibel T, Balow JE, Brady RO. 2001. Enzyme replacement therapy in Fabry disease: a randomized controlled trial. JAMA. 285(21):2743–49. doi:10.1001/jama.285.21.2743. Cited in PubMed; PMID: 11386930.
  • Segal P, Kohn Y, Pollak Y, Altarescu G, Galili-Weisstub E, Raas-Rothschild A. 2010. Psychiatric and cognitive profile in Anderson-Fabry patients: a preliminary study. J Inherit Metab Dis. 33(4):429–36. doi:10.1007/s10545-010-9133-3. Cited in PubMed; PMID: 20549363.
  • Sigmundsdottir L, Tchan MC, Knopman AA, Menzies GC, Batchelor J, Sillence DO. 2014. Cognitive and psychological functioning in Fabry disease. Arch Clin Neuropsychol. 29(7):642–50. doi:10.1093/arclin/acu047. Cited in PubMed; PMID: 25319043.
  • Slater G, Steier J. 2012. Excessive daytime sleepiness in sleep disorders. J Thorac Dis. 4(6):608–16. doi:10.3978/j.issn.2072-1439.2012.10.07. Cited in PubMed; PMID: 23205286.
  • Sodi A, Ioannidis A, Pitz S. 2006. Ophthalmological manifestations of Fabry disease. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry disease: perspectives from 5 years of FOS. Oxford: Oxford PharmaGenesis. Chapter 26.
  • Sodi A, Ioannidis AS, Mehta A, Davey C, Beck M, Pitz S. 2007. Ocular manifestations of Fabry’s disease: data from the Fabry Outcome Survey. Br J Ophthalmol. 91(2):210–14. doi:10.1136/bjo.2006.100602. Cited in PubMed; PMID: 16973664.
  • Stoschitzky K, Sakotnik A, Lercher P, Zweiker R, Maier R, Liebmann P, Lindner W. 1999. Influence of beta-blockers on melatonin release. Eur J Clin Pharmacol. 55(2):111–15. Cited in PubMed; PMID: 10335905.
  • Talbot A, Hammerschlag G, Goldin J, Nicholls K. 2017. Sleep disturbance, obstructive sleep apnoea and abnormal periodic leg movements: very common problems in Fabry disease. JIMD Rep. 31:37–44. doi:10.1007/8904_2016_549. Cited in PubMed; PMID: 27008194.
  • Turek F. 1983. Neurobiology of circadian rhythms in mammals. Bioscience. 33:439–44.
  • Wang RY, Lelis A, Mirocha J, Wilcox WR. 2007. Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life. Genet Med. 9(1):34–45. doi:10.1097/GIM.0b013e31802d8321. Cited in PubMed; PMID: 17224688.
  • Whybra C, Kampmann C, Willers I, Davies J, Winchester B, Kriegsmann J, Brühl K, Gal A, Bunge S, Beck M. 2001. Anderson-Fabry disease: clinical manifestations of disease in female heterozygotes. J Inherit Metab Dis. 24(7):715–24. doi:10.1023/A:1012993305223. Cited in PubMed; PMID: 11804208.

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.