The mutation detected in the telomerase gene is linked to a grave condition known as aplastic anaemia. Snyder does not have it. But Mara Blasco, of the CNIO, and Mercedes Gallardo, who works in Blasco's lab and collaborates with LifeLength, have measured the length of his telomeres and found that he has more short telomeres than is normal for a man of his age.
The team also documented Snyders transcriptome the genes that are actually being read; the levels of over 6,000 proteins in his body; the tens of thousands of compounds derived from the metabolism; and the antibodies present.
These analyses were repeated on some fifteen occasions in the space of a year and a half, making over three billion measurements in all. An unsought bonus was the chance to observe how a viral infection showed up in the results.
Snyder, in effect, contracted two mild viral infections in the data-gathering period, which left their molecular signature in the analyses. Perhaps the most striking observation was that, during one such infection, his blood glucose levels began to approach those of a diabetes sufferer, whereas before they had been normal, despite his genetic risk.
Just the beginning
For CNIO Director Maria Blasco, this study shows that diseases are a product of an individuals genetic profile as well as interaction with the environment. So far we know little about this correlation, while the use of human genome information to prevent and treat disease is still clearly in its infancy. But what we can see the tip of the iceberg is fascinating stuff.
Blasco and Gallardo concur that it would be premature to subject all patients to t
Centro Nacional de Investigaciones Oncologicas (CNIO)