Calzadilla-Lugo F, Martínez-Córdova Z, Ferreira-Capote R, Rosales Y, Artiles-Valor A

Language: Spanish
References: 28
Page: 30-34
PDF size: 87.41 Kb.

ABSTRACT

Narcolepsy is a sleep disorder characterized by severe, irresistible daytime sleepiness and sudden loss of muscle tone (cataplexy), and can be associated with sleep-onset or sleep-offset paralysis and hallucinations, frequent movement and awakening during sleep, and weight gain. Since 1983 it is known the association between narcolepsy and HLA genotype and its role in diagnosis and etiopathogenicity of the disease. Nowadays many researchers have studied HLA alleles DRB1 1501 and DQB1 0602 behaviour in different populations as Caucasoids, African Americans, Japanese, Chinese, etc. The DQB1*0602 allele is the best genetic marker for narcolepsy and it is associated with the appearance and severity of cataplexy. The aim of this paper is to introduce a molecular method for the detection of the HLA alleles associated with narcolepsy in Cuba and assess their role in our narcoleptic patients. We studied the presence of DR 15 y DQ 06 HLA alleles in 36 narcoleptic patients separated in two ethnic groups. The 77.7% of our patients were positive to the presence of DR 15 allele and the 86.1% were positive to DQ 06 allele, these findings agree with previous reports. No significant differences were found between the two ethnic groups concerning the presence of both alleles.

REFERENCES

1. Dauvilliers Y, Carlander B, Billiard M. Narcolepsy, from Westphal to hypocretin. Presse Med. 2004; 33: 1593-600.

2. Longstreth WT Jr, Koepsell TD, Ton TG, Hendrickson AF, Van Belle G. The epidemiology of narcolepsy. Sleep. 2007; 30: 13-26.

3. Honda Y, Asaka A, Tanaka Y, Jujuy T. Discrimination of narcoleptic patients by using genetic markers and HLA. Sleep Res. 1983; 12: 254.

4. Mignot E, Lin X, Arrigoni J, Macaubas C, Olive F, Hallmayer J. DQB1*0602 and DQA1*0102 (DQ1) are better markers than DR2 for narcolepsy in Caucasian and black Americans. Sleep. 1994; 17(8 Suppl): S60-7.

5. Mignot E, Ling L, Rogers W, Honda Y, Qiu X, Lin X, et al. Complex HLA-DR and –DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet. 2001; 68: 686-99.

6. Parkes JD, Langdon N, Lock C. Narcolepsy and immunity. Br Med J. 1986; 292: 359-60.

7. Carlander B, Eliaou JF, Billiard M. Autoimmune hypothesis in narcolepsy. Neurophysiol Clin. 1993; 23: 15-22.

8. Mignot E, Tafti M, Dement W, Grumet FC. Narcolepsy and immunity. Adv Neuroimmunol. 1994; 5: 23-37.

9. Martínez-Rodríguez JE, Sabater L, Graus F, Iranzo A, Santamaria J. Evaluation of hypothalamic-specific autoimmunity in patients with narcolepsy. Sleep. 2007; 30:27-8.

10. Fujiki N, Nishino S. Neuropeptides as possible targets in sleep disorders: special emphasis on hypocretin-deficient narcolepsy. CNS Neurol Disord Drug Targets. 2007; 6: 45-62.

11. Knudsen S, Mikkelsen JD, Jennum P. Antibodies in narcolepsy-cataplexy patient serum bind to rat hypocretin neurons. Neuroreport. 2007; 18: 77-9.

12. Wurtman RJ. Narcolepsy and the hypocretins. Metabolism. 2006; 55(10 Suppl 2):S36-9.

13. Tanaka S, Honda Y, Inoue Y, Honda M. Detection of autoantibodies against hypocretin, hcrtrl, and hcrtr2 in narcolepsy: anti-Hcrt system antibody in narcolepsy. Sleep. 2006; 29: 633-8.

14. Overeem S, Verschuuren JJ, Fronczek R, Schreurs L, den Hertog H, Hegeman-KleinnIM, et al. Immunohistochemical screening for autoantibodies against lateral hypothalamic neurons in human narcolepsy. J Neuroimmunol. 2006; 174: 187-91.

15. Morera BL, Ustáriz GC, García GM, Báez DN, Díaz LR, Guerreiro HA y cols. Frecuencia fenotípica y génica de los antígenos HLA en una muestra de la población cubana. Rev Cubana Hematol Inmunol Hemoter. 2005; 21(3). Disponible en: http://bvb.sld.cu//revistas.

16. Bunce M, Welsch KI. PCR-SSP typing. Rev Immunogenetics. 1999; 1: 157.

17. Orelup O, Zetterquist H. PCR – SSP in HLA genotyping. Tissue Antigens.1992; 39: 225-35.

18. Dauvilliers Y, Arnulf I, Mignot E. Narcolepsy with cataplexy. Lancet. 2007; 369: 499-511.

19. Dauvilliers Y, Tafti M. Molecular genetics and treatment of narcolepsy. Ann Med. 2006; 38: 252-62.

20. Mignot E. A Hundred years of narcolepsy research. Arch Ital Biol. 2001; 139: 207-18.

21. Deflandre E, Roelants F, Cambron L, Poirrier R. Narcolepsy-cataplexy. Rev Med Liege. 2002; 57: 519-24.

22. Mignot E, Hayduk R, Black J, Grumet FC, Gulleminault C. US Modafinil in narcolepsy study group. Sleep Res. 1997; 26: 433.

23. Jeong JH, Hong SC, Shin YK, Han JH, Lee SP. HLA-DQB1 allele and hypocretin in Korean narcoleptics with cataplexy. J Korean Med Sci. 2007; 22: 127-31.

24. Okun ML, Lin L, Pelin Z, Hong S, Mignot E. Clinical aspects of narcolepsy-cataplexy across ethnic groups. Sleep. 2002; 25: 27-35.

25. Roh EY, Park MH, Park H, Park DH, Choi JB, Kim SJ, et al. Association of HLA-DR and -DQ genes with narcolepsy in Koreans: comparison with two control groups, randomly selected subjects and DRB1*1501-DQB1*0602—positive subjects. Hum Immunol. 2006; 67: 749-55.

26. Dolenc-Grosel L, Vodusek DB. The importance of HLA DQB1*0602 typing I in Slovene patients with narcolepsy. Cell Mol Biol Lett. 2002; 7: 359-60.

27. Bonet-Roselló L, Martínez-Córdova Z. Los métodos serológicos y moleculares en la tipificación de los antígenos de leucocitos humanos. Minirevisión. Bioquimia 2004; 29: 126-30.

28. Han F, Chen EZ, Wei HL, Dong XS, Li J, Li M, et al. HLA-DRB and -DQB allele contribution to narcolepsy susceptibility in Chinese patients with narcolepsy. Zhonghua Yi Xue Za Zhi. 2003; 83: 644-6.