Isfahan University of Medical Sciences Journal of Isfahan Medical School 1027-7595 31 245 2013 08 23 Is there any Genetic Correlation between CACNA1A Gene and Common Migraine in Iran? Is there any Genetic Correlation between CACNA1A Gene and Common Migraine in Iran? 1105 1113 14116 FA Maryam Ostadsharif Assistant Professor, Department of Basic Medical Sciences, Islamic Azad University, Khorasgan Branch, Isfahan, Iran 0000-0002-4536-5113 Abbas Ghorbani Associate Professor, Department of Neurology, School of Medicine AND Isfahan Neurosciences Research Center, Isfahan University of Medical Science, Isfahan, Iran Mansoor Salehi Associate Professor, Department of Anatomical Sciences, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran Rokhsareh Meamar Assistant Professor, Department of Pharmacology, School of Medical Sciences, Islamic Azad University, Najafabad Branch, Isfahan, Iran 0000-0002-4536-5113 Journal Article 2013 04 09 Background: Familial hemiplegic migraine (FHM), a rare type of migraine with aura, is genetically heterogeneous. Involvement of CACNA1A gene is demonstrated in FHM. In the present study, we searched for 6 common mutations in CACNA1A gene in patients with common migraine.Methods: The study population consisted of 74 patients who divided on two groups: positive and negative familial history. We collected data about frequency and duration of their attacks, severity according to Headache impact test (HIT6) and quality of life according to version 2.1 of Migraine-specific quality of life questionnaire (MSQ2). After collection of genomic DNA samples, mutation analysis was performed by direct sequencing of 5, 16, 32 and 36 exons in CACNA1A gene.Findings: Out of 50 cases with positive familial history, the mean ± SD of frequency (in month), duration (hours in month), and severity of attacks, and also, quality of life were 9.66 ± 8.11, 18.08 ± 11.49, 62.84 ± 7.03, and 44.8 ± 13.5, respectively. The corresponded results were 9.95 ± 9.39, 18.83 ± 12.11, 61.04 ± 6.55, and 38.38 ± 10.9, respectively in 24 cases with negative familial history. Only a significant difference in quality of life was observed between the groups (P = 0.047). Mutation analysis of the CACNA1A gene in 30 probands of migraine with positive familial history revealed polymorphism (nt 2369 G A) in exon 16 in 9 patients, but no mutations were identified in gene. There was no significant relationship between polymorphism and frequency, duration, and severity of attacks and also, quality of life and type of migraine.Conclusion: Our data suggest that in Iranian patients with migraine, no mutations in CACNA1A gene were identified and we have no evidence for involvement of this gene in these patients. Background: Familial hemiplegic migraine (FHM), a rare type of migraine with aura, is genetically heterogeneous. Involvement of CACNA1A gene is demonstrated in FHM. In the present study, we searched for 6 common mutations in CACNA1A gene in patients with common migraine.Methods: The study population consisted of 74 patients who divided on two groups: positive and negative familial history. We collected data about frequency and duration of their attacks, severity according to Headache impact test (HIT6) and quality of life according to version 2.1 of Migraine-specific quality of life questionnaire (MSQ2). After collection of genomic DNA samples, mutation analysis was performed by direct sequencing of 5, 16, 32 and 36 exons in CACNA1A gene.Findings: Out of 50 cases with positive familial history, the mean ± SD of frequency (in month), duration (hours in month), and severity of attacks, and also, quality of life were 9.66 ± 8.11, 18.08 ± 11.49, 62.84 ± 7.03, and 44.8 ± 13.5, respectively. The corresponded results were 9.95 ± 9.39, 18.83 ± 12.11, 61.04 ± 6.55, and 38.38 ± 10.9, respectively in 24 cases with negative familial history. Only a significant difference in quality of life was observed between the groups (P = 0.047). Mutation analysis of the CACNA1A gene in 30 probands of migraine with positive familial history revealed polymorphism (nt 2369 G A) in exon 16 in 9 patients, but no mutations were identified in gene. There was no significant relationship between polymorphism and frequency, duration, and severity of attacks and also, quality of life and type of migraine.Conclusion: Our data suggest that in Iranian patients with migraine, no mutations in CACNA1A gene were identified and we have no evidence for involvement of this gene in these patients. https://jims.mui.ac.ir/article_14116_680cdf3f4fbe1106a6b5a135d8a7c9fb.pdf