Mitochondrial DNA variant m.15218A > G in Finnish epilepsy patients who have maternal relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus

BMC Medical Genetics

Kari Majamaa¹  Saara Finnilä¹  Tiina Vilmi-Kerälä¹  Jukka S Moilanen²  Heidi K Soini¹ 

[1] Clinical Research Center, Oulu University Hospital, P.O. Box 5000, FI-90014, Oulu, Finland;Department of Clinical Genetics, Oulu University Hospital and University of Oulu P.O. Box 23, FI-90029, OYS, Oulu, Finland

关键词: Haplogroup U5a1;    Maternal inheritance;    Nonsynonymous mutation;    Sequence variation;    Mitochondrial haplogroups;    Mitochondrial DNA;    mtDNA;    Epilepsy;   

Others  :  1127656
DOI  :  10.1186/1471-2350-14-73

 received in 2012-09-25, accepted in 2013-07-17,  发布年份 2013

【 摘 要 】

Background

Mitochondrial diseases caused by mutations in mitochondrial DNA (mtDNA) affect tissues with high energy demand. Epilepsy is one of the manifestations of mitochondrial dysfunction when the brain is affected. We have studied here 79 Finnish patients with epilepsy and who have maternal first- or second-degree relatives with epilepsy, sensorineural hearing impairment or diabetes mellitus.

Methods

The entire mtDNA was studied by using conformation sensitive gel electrophoresis and PCR fragments that differed in mobility were directly sequenced.

Results

We found a common nonsynonymous variant m.15218A > G (p.T158A, MTCYB) that occurs in haplogroup U5a1 to be more frequent in patients with epilepsy. The m.15218A > G variant was present in five patients with epilepsy and in four out of 403 population controls (p = 0.0077). This variant was present in two branches in the phylogenetic network constructed on the basis of mtDNA variation among the patients. Three algorithms predicted that m.15218A > G is damaging in effect.

Conclusions

We suggest that the m.15218A > G variant is mildly deleterious and that mtDNA involvement should be considered in patients with epilepsy and who have a maternal history of epilepsy, sensorineural hearing impairment or diabetes mellitus.

【 授权许可】

   
2013 Soini et al.; licensee BioMed Central Ltd.

【 图 表 】

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