Two Common Mitochondrial DNA Polymorphisms are Highly Associated with Migraine Headache and Cyclic Vomiting Syndrome

Zaki, Essam A.; Freilinger, Tobias; Klopstock, Thomas; Baldwin, Erin E.; Heisner, Katherine R.U.; Adams, Kathleen; Dichgans, Martin; Wagler, Stephanie; Boles, Richard G.

doi:10.1111/j.1468-2982.2008.01793.x

Cited by 138 publications

(116 citation statements)

References 53 publications

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“…The strong association between CVS and maternal migraine [11] has spurred research into the possibility of maternal inheritance of mitochondrial disease. CVS has been associated with several mitochondrial DNA polymorphisms including 19519C-T [12] and variants in the hypervariable segments in the mitochondrial sequence [13].…”

Section: Introductionmentioning

confidence: 99%

The management of cyclic vomiting syndrome

L¹,

Abbott²,

Mahlangu³

et al. 2012

European Journal of Gastroenterology & Hepatology

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Cyclic vomiting syndrome (CVS) is a rare abnormality of the neuroendocrine system that affects 2% of children. It is a frequently missed diagnosis in the emergency department and may require a number of emergency department visits before the diagnosis is made. The objectives of this review are to identify the clinical features that suggest a diagnosis of CVS and to review the literature on its management. The MEDLINE and EMBASE databases were searched from January 1948 to October 2011 using the keywords 'Cyclic' or 'Vomiting'. Papers were excluded if they did not follow the consensus guidelines or if they were case reports. This review analysed 1093 cases of cyclic vomiting in 25 papers that fulfilled the inclusion criteria. All except one paper were retrospective studies. The size of these cohort studies ranged from three to 181 patients, with a mean patient size of 29. This review found that over 40% of patients have headaches/migraines, with associated anxiety and depression in ≈ 30% of cases. There is a family history of headaches/migraines in 38.9%, and this association was much stronger in the adult CVS cohort compared with the paediatric cohort. Compared with paediatric CVS, adults have a longer duration of attacks and they occur more frequently (5.9 vs. 3.4 days, 14.4 vs. 9.6 episodes/year). Limited data are available on the treatment of the acute phase of CVS, but in adults, sumatriptan has been shown to be effective. For prophylactic treatment, tricyclics are effective in both adult and paediatric CVS, with a clinical response in 75.5 and 67.6% of patients, respectively, in nonplacebo-controlled cohort studies. Furthermore, propranolol has been shown to be useful in children. CVS is an intractable illness with a major impact on the patient's quality of life. There is a long duration between the onset of symptoms and the diagnosis of the condition. There is a high association with headaches/migraines and anxiety/depression. The symptoms are more severe in adult-onset CVS. Tricyclic antidepressants have good efficacy in reducing the frequency/duration or the intensity of attacks. There is limited evidence on the acute management of CVS.

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Section: Introductionmentioning

confidence: 99%

The management of cyclic vomiting syndrome

L¹,

Abbott²,

Mahlangu³

et al. 2012

European Journal of Gastroenterology & Hepatology

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“…The cause is likely a result of disorders of the central neural pathways and neuroendocrine mediators involved in the brain-gut pathways of nausea and vomiting [3]. There is also some evidence to suggest underlying abnormalities in the mitochondria [5][6][7] and the autonomic nervous system [8][9][10][11][12].…”

Section: Introductionmentioning

confidence: 99%

Cyclic vomiting syndrome in 28 patients

Lee

Abbott

Moodie

et al. 2012

European Journal of Gastroenterology & Hepatology

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CVS is a debilitating illness with frequent attacks of prolonged duration. There is a high association with anxiety/depression as well as headaches. Antimigraine medication, β-blockers and antiepileptic treatment may be successful at attenuating attacks; however, in this long-term study, the prognosis of patients not treated with these medications was also good. Overall, 61.9% of patients showed a gradual improvement in symptoms and 23.8% had complete resolution after a mean of 7 years.

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“…Cyclic vomiting syndrome (CVS) is a functional disorder that generally demonstrates maternal inheritance (2); mtDNA sequence variants have been reported in CVS (3,24,42,44). In a previous study by Boles et al (2), two common mtDNA single nucleotide polymorphisms (SNPs), 16519C (cytosine)ϾT (thymine) and 3010G (guanine)ϾA (adenine), were found to be associated with CVS and migraine among patients with the mtDNA SNP 7028C (haplogroup H).…”

mentioning

confidence: 99%

Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders

Camilleri

Carlson

Zinsmeister³

et al. 2009

American Journal of Physiology-Gastrointestinal and Liver Physi

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Our hypothesis is that these mtDNA SNPs are associated with functional GI disorders (FGIDs) and GI functions. The mt genome was first tested for the 7028C polymorphism (defining haplogroup H) in 699 patients or controls, and those with 7028C were further genotyped at 16519 and 3010. Phenotypes were based on symptoms (validated questionnaires and criteria) and GI physiology using validated motor and sensory studies. Constipation-predominant IBS and alternating constipation and diarrhea IBS are less prevalent in individuals with the 7028C mtDNA polymorphism than in individuals with 7028T. Conversely, 7028C is associated with higher maximum tolerated volume (lower satiation) compared with 7028T. Among those with 7028C, nonspecific abdominal pain (chronic abdominal pain or dyspepsia) was significantly associated with 3010A compared with 3010G (odds ratio 3.3, P ϭ 0.02), and slower gastric emptying was statistically associated with 3010G. There were no significant associations of mtDNA genotypes tested and stomach volumes, small bowel or colonic transit, rectal compliance, and motor or sensory functions. Thus variation in mtDNA may be associated with satiation, gastric emptying, and possibly pain; further studies of mtDNA in appetite regulation and larger numbers of patients with FGIDs are warranted.

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Two Common Mitochondrial DNA Polymorphisms are Highly Associated with Migraine Headache and Cyclic Vomiting Syndrome

Cited by 138 publications

References 53 publications

The management of cyclic vomiting syndrome

The management of cyclic vomiting syndrome

Cyclic vomiting syndrome in 28 patients

Mitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders

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