Exercise, Health & Genetics Lecture Flashcards

Vocabulary-style flashcards covering the relationship between genetics, exercise physiology, protein synthesis, and sports performance based on the lecture notes.

Single Nucleotide Polymorphisms (SNP)

Variations in a single DNA base pair that play a key role in diseases like heart disease and diabetes, as well as drug efficacy and metabolism (e.g., caffeine metabolism).

De novo lipogenesis (DNL)

An endogenous pathway that converts excess dietary starch, sugar, protein, and alcohol into specific fatty acids.

Respiratory Exchange Ratio (RER)

The ratio of $VCO_2$ to $VO_2$; an RER greater than $1$ at rest can indicate De novo lipogenesis.

Genome

The total genetic information coded in the DNA of a typical cell of an organism.

Gene

A sequence of DNA nucleotides that specifies the sequence of amino acids in a single polypeptide chain (a protein).

Nucleosome

Clusters or complexes of DNA coiled around special packaging proteins called histones.

Transcription

The first part of protein synthesis where DNA serves as a template to create an mRNA molecule, catalysed by the enzyme RNA polymerase.

Translation

The second part of protein synthesis where the mRNA triplet code is used by ribosomes to assemble an amino acid sequence (polypeptide chain).

Purine bases

A class of DNA bases including adenine (A) and guanine (G) which consist of double rings of nitrogen and carbon atoms.

Pyrimidine bases

A class of DNA bases including cytosine (C) and thymine (T) which consist of only a single ring.

Helicase

An initiator protein and enzyme that splits DNA apart by breaking the hydrogen bonds between the bases.

Codon

A three-letter sequence or 'word' in the genetic code that encodes a specific amino acid (e.g., AUG for Methionine).

Spliceosomes

Molecular complexes that edit the mRNA molecule before it leaves the nucleus during protein synthesis.

$VO_2max$ Heritability

The hereditary factor of maximal oxygen uptake, estimated at approximately $47\%$ based on the HERITAGE study by Bouchard et al. (1999).

Muscle Memory (Cellular)

A cellular mechanism where the increased number of myonuclei gained during muscle hypertrophy persists even after muscles return to normal size during inactivity.

ACTN3

The 'Speed Gene' which encodes structural components of the Z line in skeletal muscle; the null genotype XX is associated with lower sprint and power performance in elite athletes.

Myostatin

A myokine that inhibits muscle cell growth; mutations in its gene can lead to reduced body fat and significantly increased muscle size.

ACE (Angiotensin converting enzyme)

A gene variant where the II allele is frequently associated with endurance athletes and mountaineers.

Sickle Cell Disease

An inherited blood disorder caused by an SNP in the $B$-globin gene ($HBB$) where a GAG codon changes to GTG, substituting Glutamate for Valine.

Cystic Fibrosis

A genetic disorder caused by mutations in the CFTR gene, often involving the deletion of three nucleotides resulting in the loss of phenylalanine at the $508^{th}$ position.

Gene Doping

Defined by WADA as the non-therapeutic use of genes, genetic elements, and/or cells that have the capacity to enhance athletic performance.