Is there a functional relationship between the polymorphisms genotypes of the mitochondrial biogenesis pathway and mtdna copy numbers in high-level physical capacity men? A pilot study
Is there a functional relationship between the polymorphisms genotypes of the mitochondrial biogenesis pathway and mtdna copy numbers in high-level physical capacity men? A pilot study
Sánchez Lorente, Isabel María; Iturriaga Ramírez, Tamara; Larrosa Pérez, Mar; García Merino, José Ángel; Sánchez Barroso, Lara; Jiménez, Alfonso; Fernández Elías, Valentín Emilio; Pérez Ruiz, Margarita; Santiago Dorrego, Catalina; Yvert, Thomas Paul
Materia UNESCO:Genética humana Materia UNESCO:Fisiología humana Materia UNESCO:Deporte
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INTRODUCTION: Mitochondrion is the cellular organelle that produces energy for the organism generating adenosine triphosphate (ATP)
using O2 and nutrients. Physical capacity levels are thus directly related with mitochondrial activity (1). Mitochondrial DNA (mtDNA) copy
number is proportional to the mtDNA volume in a cell, and can be used as a marker of mitochondrial function (2). Several polymorphisms
in the genes of the cellular mitochondrial regulation pathway are already known to be related with the elite athlete status and physical
capacity (3,4). Nevertheless, to date, there is few information about the functional relationship between these polymorphisms and the
physiological mechanisms leading to an improvement of the physical capacity. The aim of this study was to evaluate the possible functional relationship between mitochondrial pathway genes and the mitochondrial activity in men with high cardiorespiratory fitness level.
METHODS: We measured the leukocyte mtDNA copy number in 38 healthy men aged between 18-45 with a VO2max above 55 ml.kg1.min-1 using a Mitochondrial to Nuclear DNA Ratio kit. The analysed singles nucleotide polymorphisms (SNPs) of the biogenesis pathway
were: Per...