TERT
Telomerase reverse transcriptase (TERT) forms part of the enzyme telomerase and is encoded for by the TERT gene which is responsible for maintaining the structure of our chromosomes.
Within almost every cell is structure known as the nucleus which contains 23 pairs of chromosomes, hence the name of the company 23andme. Each of these chromosomes comprises millions of bases that form genes, which can be read by cells to produce proteins required for function and survival. These genes are very sensitive to adjustments, hence why single base changes, as occurs with SNPs can have such profound effects.
The ends of chromosomes are sensitive to damage
The ends of chromosomes are particularly sensitive to damage and so all of our chromosomes feature large structural buffers made up of hundreds of thousands of bases, termed telomeres.
Telomeres function to protect genes from degradation, but every time a cell divides telomeres lose a few hundred base-pairs. In most of the cells of our body after a certain number of divisions, telomeres are lost and genetic information begins to get damaged, at this point cells typically die in order to maintain cell and tissue function. However, some cells contain an enzyme known as telomerase which is able to replenish telomeres allowing cells to carry on dividing 1.
Improper activation of telomerase in cells which should be degraded, such as cancerous cells, can lead to the development of cancers 2. As such TERT forms part of telomerase and contains one SNP which is associated with poor health outcomes.
| rsID Number | Major Allele | Minor Allele | Minor Allele Frequency (%) |
|---|---|---|---|
| rs2736100 | g | t | 48 |
Risk Description
The ‘T’ allele of G1574-3777T is associated with reduced telomere length and an increased risk of several cancers of rapidly dividing tissues such as the lung or liver 3,4. It is unclear how this SNP increases the risk of developing cancer, although there are two hypotheses. Either, telomerase activity is reduced leading to shorter telomeres being formed and an increased risk of cancer causing mutations arising. Or alternatively, alterations in the promoter region of TERT lead to aberrant expression in cells which would otherwise be targeted for degradation.
Indirect Nutrients:*
| Ingredient | Active Ingredient | Effect |
|---|---|---|
| Vitamin C | Ascorbic acid |
As the exact activity of the ‘T’ allele of G1574-3777T is poorly understood it is difficult to identify beneficial nutrients directly linked to its action. Rather, potent antioxidants such as Vitamin C may provide a beneficial, cancer preventing effect 5. |
| Lycopene |
Lycopene is a carotenoid plant pigment with a strong antioxidant capacity. A major dietary source of lycopene is tomatoes, with cooking increasing the bio-availability of lycopene (cooked tomato forms one of the key components of the Mediterranean diet, which has numerous supposed health benefits). Lycopene exhibits a strong anti-cancer effect which may prove beneficial to those carrying the ‘T’ allele of G1574-3777T 6. |
|
| Vitamin D | Calcitriol |
A lack of vitamin D has been associated with several cancers including liver, pancreatic and ovarian 7. As the majority of us are deficient for vitamin D based on modern dietary and lifestyle choices, it is usually recommended. For those carrying the ‘T’ allele of G1574-3777T who are at an elevated risk of developing cancer, vitamin D supplementation may prove beneficial. |
Discuss this information with your doctor before taking any course of action.
Citations:
- https://www.ncbi.nlm.nih.gov/pubmed/17581575
- https://www.ncbi.nlm.nih.gov/pubmed/20125188
- https://www.ncbi.nlm.nih.gov/pubmed/26590902
- https://www.ncbi.nlm.nih.gov/pubmed/22041560
- https://www.ncbi.nlm.nih.gov/pubmed/14668266/
- https://www.ncbi.nlm.nih.gov/pubmed/7473833/
- https://www.ncbi.nlm.nih.gov/pubmed/25799011