Mitochondrial DNA control region sequence variation in Migraine headache and cyclic vomiting syndrome

American Journal of Medical Genetics

Volumn 131 A, Issue 1, 2004, Pages 50-58

  Wang, Qingxue ^a   Ito, Masamichi ^a,g   Adams, Kathleen ^b   Li, B U K ^c,d   Klopstock, Thomas ^e   Maslim, Audrey ^a   Higashimoto, Tomoyasu ^a,f   Herzog, Juergen ^e   Boles, Richard G ^a,f  

^a CHILDREN S HOSPITAL LOS ANGELES   (United States)

^b MEDICAL COLLEGE OF WISCONSIN   (United States)

^c CHILDREN'S MEMORIAL HOSPITAL   (United States)

^d NORTHWESTERN UNIVERSITY   (United States)

^e LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^f UNIVERSITY OF SOUTHERN CALIFORNIA   (United States)

^g BOSTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

CVS; DNA sequencing; Heteroplasmy; Maternal inheritance; Migraine without aura; mtDNA; TTGE

Indexed keywords

MITOCHONDRIAL DNA;

ARTICLE; CHILD; CLINICAL ARTICLE; CONTROLLED STUDY; CYCLIC VOMITING SYNDROME; DNA SEQUENCE; GEL ELECTROPHORESIS; GENE CLUSTER; GENETIC RISK; GENETIC SCREENING; HEADACHE; HETEROPLASMY; HUMAN; MIGRAINE; NEUROMUSCULAR DISEASE; PRIORITY JOURNAL; RANDOMIZATION; REGULATORY MECHANISM; RESTRICTION FRAGMENT LENGTH POLYMORPHISM; RISK FACTOR; SEQUENCE ANALYSIS; VOMITING;

BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; DNA, MITOCHONDRIAL; HAPLOTYPES; HUMANS; MIGRAINE DISORDERS; MUTATION; POLYMERASE CHAIN REACTION; SYNDROME; VARIATION (GENETICS); VOMITING;

EID: 7244251717     PISSN: 15524825     EISSN: None     Source Type: Journal    
DOI: 10.1002/ajmg.a.30323     Document Type: Article

References (40)

1. Abu-Arafeh I, Russell G. 1995. Cyclical vomiting syndrome in children: A population-based study. J Pediatr Gastroenterol Nutr 21:454-458.
2. Blau JN. 1992. Migraine: Theories of pathogenesis. Lancet 339:1202-1207.
3. Boles RG, Williams JC. 1999. Mitochondrial disease and cyclic vomiting syndrome. Dig Dis Sci 44(Suppl):103S-107S.
4. Boles RG, Chun N, Senadheera D, Wong L-JC. 1997. Cyclic vomiting syndrome and mitochondrial DNA mutations. Lancet 350:1299-1300.
5. Boles RG, Adams K, Ito M, Li BUK. 2003a. Maternal inheritance in cyclic vomiting syndrome with neuromuscular disease. Am J Med Genet 120:474-482.
6. Boles RG, Luna C, Ito M. 2003b. Severe reversible cardiomyopathy in infants with mitochondrial DNA D-loop heteroplasmy. Pediatr Cardiol 24:484-487.
7. Boles RG, Chaudhari D, Söderkvist J, Podberezin M, Ito M. 2003c. Quantification of mitochondrial DNA heteroplasmy using temporal temperature gradient gel electrophoresis. Clin Chem 49:198-200.
8. Chen T-J, Boles RG, Wong L-JC. 1999. Detection of mitochondrial DNA mutations by temporal temperature gradient gel electrophoresis. Clin Chem 45:1162-1167.
9. Ciafaloni E, Ricci E, Shanske S, Moraes CT, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati MA, Garcia C, Martinuzzi A, Mosewich R, Servidei S, Zammarchi E, Bonilla E, DeVivo DC, Rowland LP, Schon EA, DiMauro S. 1992. MELAS: Clinical features, biochemistry, and molecular genetics. Ann Neurol 31:391-398.
10. Leu(UUR) del AND mitocondrial. Rev Neurol 31:804-811.
11. Couch JR, Verhulst S, Bearss C. 1986. Preponderance of maternal as opposed to paternal factors influencing migraine heredity. Neurology 36(Suppl 1):99.
12. Cullen K, Macdonald WB. 1963. The periodic syndrome: Its nature and prevalence. Med J of Australia 2:167-172.
13. Di Gennaro G, Buzzi MG, Ciccarelli O, Santorelli FM, Pierelli F, Fortini D, D'Onofrio M, Costa A, Nappi G, Casali C. 2000. Assessing the relative incidence of mitochondrial DNA A3243G in migraine without aura with maternal inheritance. Headache 40:568-571.
14. Estevez M, Gardner KL. 2004. Update on the genetics of migraine. Hum Genet 114:225-235.
15. Finnila S, Hassinen IE, Majamaa K. 2001. Phylogenetic analysis of mitochondrial DNA in patients with an occipital stroke. Evaluation of mutations by using sequence data on the entire coding region. Mutat Res 458:31-39.
16. Fleisher DR. 1995. The cyclic vomiting syndrome described. J Pediatr Gastroenterol Nutr 21(Suppl 1):S1-S5.
17. Guan MX, Fischel-Ghodsian N, Attardi G. 2001. Nuclear background determines biochemical phenotype in the deafness-associated mitochondrial 12S rRNA mutation. Hum Mol Genet 10:573-580.
18. Haan J, Terwindt GM, Maassen JA, Hart LM, Frants RR, Ferrari MD. 1999. Search for mitochondrial DNA mutations in migraine subgroups. Cephalalgia 19:20-22.
19. Ito M, Le ST, Chaudhari D, Higashimoto T, Maslim A, Boles RG. 2001. Screening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease. Mitochondrion 1:269-278.
20. Klopstock T, May A, Seibel P, Papagiannuli E, Diener HC, Reichmann H. 1996. Mitochondrial DNA in migraine with aura. Neurology 46:1735-1738.
21. Li BUK. 1995. Cyclic vomiting: The pattern and syndrome paradigm. J Pediatr Gastroenterol Nutr 21(Suppl 1):S6-S10.
22. Li BU, Murray RD, Heitlinger LA, Robbins JL, Hayes JR. 1999. Is cyclic vomiting syndrome related to migraine? J Pediatr 134:567-572.
23. Lipton RB. 1993. Migraine in the United States: A review of epidemiology and health care use. Neurology 43:S6-S10.
24. MITOMAP. 2003. A human mitochondrial genome database. http://www.mitomap.org
25. Mochi M, Cevoli S, Cortelli P, Pierangeli G, Soriani S, Scapoli C, Montagna P. 2003. A genetic association study of migraine with dopamine receptor 4, dopamine transporter and dopamine-beta-hydroxylase genes. Neurol Sci 23:301-305.
26. Montagna P, Sacquegna T, Martinelli P, Cortelli P, Bresolin N, Moggio M, Baldrati A, Riva R, Lugaresi E. 1988. Mitochondrial abnormalities in migraine. Preliminary findings. Headache 28:477-480.
27. Montagna P, Cortelli P, Barbiroli B. 1994. Magnetic resonance spectroscopy studies in migraine. Cephalalgia 14:184-193.
28. Mortimer MJ, Kay J, Jaron A, Good PA. 1992. Does a history of maternal migraine or depression predispose children to headache and stomachache? Headache 32:353-355.
29. Ojaimi J, Katsabanis S, Bower S, Quigley A, Byrne E. 1998. Mitochondrial DNA in stroke and migraine with aura. Cerebrovasc Dis 8:102-106.
30. Okada H, Araga S, Takeshima T, Nakashima K. 1998. Plasma lactic acid and pyruvic acid levels in migraine and tension-type headache. Headache 38:39-42.
31. Pronicki M, Sykut-Cegielska J, Mierzewska H, Tonska K, Karczmarewicz E, Iwanicka K, Bartnik E, Pronicka E. 2002. Diversity of clinical symptoms in A3243G mitochondrial DNA mutation (MELAS syndrome mutation). Med Sci Monit 8:CR767-CR773.
32. Russell MB, Ulrich V, Gervil M, Olesen J. 2002. Migraine without aura and migraine with aura are distinct disorders. A population-based twin survey. Headache 42:332-336.
33. Sacconi S, Salviati L, Gooch C, Bonilla E, Shanske S, DiMauro S. 2002. Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA. Arch Neurol 59:1013-1015.
34. Sangiorgi S, Mochi M, Riva R, Cortelli P, Monari G, Pierangeli G, Montagna P. 1994. Abnormal platelet mitochondrial function in patients affected by migraine with and without aura. Cephalalgia 14:21-23.
35. Sbisa E, Tanzariello F, Reyes A, Pesole G, Saccone C. 1997. Mammalian mitochondrial D-loop region structural analysis: Identification of new conserved sequences and their functional and evolutionary implications. Gene 205:125-140 and linked information at http://www.ba.cnr.it/dloop.html.
36. Shimomura T, Kitano A, Marukawa H, Takahashi K. 1995. Mutation in platelet mitochondrial gene in patients with migraine. Cephalalgia 15(Suppl 13):10.
37. Shoffner JM, Wallace DC. 1995. Oxidative phosphorylation diseases. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic and molecular bases of inherited disease, 7th edn. New York: McGraw-Hill. pp 1535-1629.
38. Symon DN, Russell G. 1995. The relationship between cyclic vomiting syndrome and abdominal migraine. J Pediatr Gastroenterol Nutr 21(Suppl 1):S42-S43.
39. Torroni A, Lott MT, Cabell MF, Chen YS, Lavergne L, Wallace DC. 1994. mtDNA and the origin of the Caucasians: Identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet 55:760-776.
40. Wong LJ, Lam C. 1997. Alternative, noninvasive tissues for quantitative screening of mutant mitochondrial DNA. Clin Chem 43:1241-1243.