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

Oflaz O., Ağaşcıoğlu E. A.

Journal of Athletic Performance and Nutrition, vol.8, no.1, pp.15-23, 2021 (Peer-Reviewed Journal)


Oxygen carrying capacity is important in endurance exercises. Iron is an important
component of the oxygen transport mechanism. Impairment of ir
on metabolism can lead to the
development of many diseases. Human homeostatic iron regulator protein (High Fe
: 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 i
ron 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 i
n volume and distance to the active site.
Homology modelling studies were created by using Swiss
Model. Homology models
were analyzed by using UCSF Chimera.
According to our results, a volumetric contraction of 64.6 Å
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.
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.
exercise, homology modelling