The Relationship of the HFE Gene H63A Mutant Type with Aerobic Exercise and A Bioinformatics Analysis

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Eda Akkız Ağaşcığolu Ofcan Oflaz


Objectives: Oxygen carrying capacity is important in endurance exercises. Iron is an important component of the oxygen transport mechanism. Impairment of iron metabolism can lead to the development of many diseases. Human homeostatic iron regulator protein (High Fe+2: HFE) has a key role in the iron mechanism. Several mutations in HFE alter the function of iron metabolism. The H63A mutation causes more free iron to accumulate in the blood of sedentary individuals and decreases the uptake of iron into the cell, which is associated with various diseases. On the other hand, it is reported that long-term endurance exercise reduces blood serum iron level to normal level in sedentary individuals with HFE H63A mutation. Our study aims to model the three-dimensional structure of the HFE protein H63A mutation using the homology modeling technique, to analyze the hydrophobicity of the modeled structure, and the changes in volume and distance to the active site.

Methods: Homology modelling studies were created by using Swiss-Model. Homology models were analyzed by using UCSF Chimera.

Results: According to our results, a volumetric contraction of 64.6 Å3 in the mutation region, a hydrophobic change of the neutral area with the large surface area, a hydrophobic change with the narrower surface area and a distance of 12.2 Å to the active site were found. The effects of the data obtained in the analysis on the iron mechanism are discussed.

Conclusions: While these results explain the possible cause of elevated serum iron levels due to the H63A mutation in the HFE gene, they highlight the need for more studies on balancing the serum iron level with long-term aerobic exercise and the transfer of iron into the cell.

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How to Cite
Ağaşcığolu, E., & Oflaz, O. (2022). The Relationship of the HFE Gene H63A Mutant Type with Aerobic Exercise and A Bioinformatics Analysis. Journal Of Athletic Performance And Nutrition, 8(1-2), 15-23. doi:10.31131/japn.v8i1-2.121
Research Paper