Carnosine (β-alanyl-L-histidine) is important for energy balance during exercise, particularly in muscles that rely on anaerobic metabolism to fuel their activity. Two forms of carnosinase genes have been identified: CNDP1 and CNDP2. Two single nucleotide polymorphisms (CNDP1 rs2887 and CNDP2 rs3764509) are associated with power athlete status.

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The following short sequences of DNA have been used to identify chromosomes that are known regulators of energy metabolism and cellular homeostasis in elite power athletes:
- SUCLA2
- UCP2
- CKM
- AMPD1
- CNDP
- PPARG
- PPARGC1
- HSD17B14
- TPK1
- GALNT13

Genetic Markers that Indicate Regulators of Energy Metabolism and Cellular Homeostasis in Athletes

Maciejewska-Skrendo, A., Cięszczyk, P., Chycki, J., Sawczuk, M., & Smółka, W. (2019). Genetic Markers Associated with Power Athlete Status. Journal of human kinetics, 68, 17–36. https://doi.org/10.2478/hukin-2019-0053

Genetic Markers Associated with Power Athlete Status (Reference)

Myopathic mitochondrial DNA depletion syndrome is brought on by SUCLA2 gene defects. The whole genome analyses conducted have identified the "SUCLA2 rs10397 A" allele as a predictor for strong athlete status. Regardless of their sport, all athletes should be aware of the rs10397 variations since they may affect how ATP generation is regulated.

SUCLA2

The skeletal muscle has the highest levels of the UCP2 gene's expression, though it is expressed in many tissues. The UCP2 gene polymorphism C/T (rs660339), which causes an Ala55Val amino acid substitution, has been described as being connected with the status of power athletes. Power athletes have an excess of the C allele (Ala55).

UCP2

The muscle-specific creatine kinase (CKM) gene is a key candidate gene among other specialized genes that have been linked to performance because of its function in energy management in muscle cells. For the maintenance of energy in the muscle cell during activities involving muscular contraction, CKM is a crucial enzyme. Variants  have been linked to human skeletal muscle function; they are related to physical performance and help explain variations in maximal power output.

Among adult skeletal muscles, AMPD1 is expressed at high levels and produces the myoadenylate deaminase isoform M. People with the rs17602729 mutation have extremely low AMPD1 activities, those with one normal allele and one mutant allele have intermediate AMPD1 activities, and those with two normal alleles have high AMPD1 activities. Performance during sprints/strength exercises may be adversely affected by AMPD1 deficiency.

AMPD1

PPARG serves an important physiological purpose as a central transcriptional regulator of adipogenic and lipogenic programs, insulin sensitivity, and glucose homeostasis. The PPARG Pro12Ala polymorphism (rs1801282C/G) is associated with decreased receptor activity and improved insulin sensitivity. The carriers of the 12Ala allele (G allele) show higher rates of skeletal muscle glucose uptake and a greater cross-sectional area of muscle fibers. This genotype is observed with higher frequency in power athletes compared to the general population.

PPARG

The PPARGC1 gene has been divided into two gene subtypes:  PPARGC1A and  PPARGC1B. These genes code for proteins that are transcriptional coactivators of many different transcription factors and nuclear receptors. Though the exact mechanism is unknown, allelic variations in their genes increase the risk of the development of 2 diabetes mellitus and obesity. The rs10060424 C allele of PPARGC1B gene was associated with power athlete status.

PPARGC1

Proteins encoded by this gene are primarily involved in steroid metabolism at the C17 position as well as metabolism of other substrates, such as fatty acids, prostaglandins, and xenobiotics. This implies that they are involved in energy balance maintenance. The rs7247312 G allele is associated with power athlete status.

HSD17B14 Gene

TPK1 partakes in the regulation of thiamine (Vitamin B) metabolism. It is a cellular enzyme. Defects in the TPK1 gene can cause of thiamine metabolism dysfunction. TPK1 rs10275875 С allele is a genetic marker associated with power athlete status. This may be due to the importance of Vitamin B in energy production and tissue repair.

TPK1 Gene

The protein encoded by GALNT13 is likely involved in metabolism and energy pathways. The GALNT13 G allele of rs10196189 A/G polymorphism is significantly over-represented in elite sprinters compared to the general population.

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