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http://purl.uniprot.org/citations/31664900http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/31664900http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/31664900http://www.w3.org/2000/01/rdf-schema#comment"

Background

We have previously reported on paucity of mitochondrial DNA (mtDNA) haplogroups J and K among Finnish endurance athletes. Here we aimed to further explore differences in mtDNA variants between elite endurance and sprint athletes. For this purpose, we determined the rate of functional variants and the mutational load in mtDNA of Finnish athletes (n = 141) and controls (n = 77) and determined the sequence variation in haplogroups.

Results

The distribution of rare and common functional variants differed between endurance athletes, sprint athletes and the controls (p = 0.04) so that rare variants occurred at a higher frequency among endurance athletes. Furthermore, the ratio between rare and common functional variants in haplogroups J and K was 0.42 of that in the remaining haplogroups (p = 0.0005). The subjects with haplogroup J and K also showed a higher mean level of nonsynonymous mutational load attributed to common variants than subjects with the other haplogroups. Interestingly, two of the rare variants detected in the sprint athletes were the disease-causing mutations m.3243A > G in MT-TL1 and m.1555A > G in MT-RNR1.

Conclusions

We propose that endurance athletes harbor an excess of rare mtDNA variants that may be beneficial for oxidative phosphorylation, while sprint athletes may tolerate deleterious mtDNA variants that have detrimental effect on oxidative phosphorylation system. Some of the nonsynonymous mutations defining haplogroup J and K may produce an uncoupling effect on oxidative phosphorylation thus favoring sprint rather than endurance performance."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.org/dc/terms/identifier"doi:10.1186/s12864-019-6171-6"xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Majamaa K."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Majamaa K."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Moilanen J.S."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Moilanen J.S."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Kiiskila J."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Kiiskila J."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Kytovuori L."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Kytovuori L."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Niemi A.K."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/author"Niemi A.K."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/date"2019"xsd:gYear
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/date"2019"xsd:gYear
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/name"BMC Genomics"xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/name"BMC Genomics"xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/pages"784"xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/pages"?-784"xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/title"Analysis of functional variants in mitochondrial DNA of Finnish athletes."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/title"Analysis of functional variants in mitochondrial DNA of Finnish athletes."xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/volume"20"xsd:string
http://purl.uniprot.org/citations/31664900http://purl.uniprot.org/core/volume"20"xsd:string
http://purl.uniprot.org/citations/31664900http://www.w3.org/2004/02/skos/core#exactMatchhttp://purl.uniprot.org/pubmed/31664900
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