By Emma Kampouraki
Obesity, dwarfism and intellectual disability. Can you guess what they have in common? I couldn’t either before the 17th May when “pint of science” brought all three topics in one evening and explained “how genes run and ruin our lives”. Three local scientists, mainly PhD students, gave three wonderful presentations explaining the interaction between genetics and environment in the context of various diseases. Diseases we still struggle to fight in the 21st century.
Obesity, a modern pandemic, is the result of multiple factors such as exercise, quality of mitochondria, DNA mutations in mitochondria, nuclear DNA mutations and diet. Various myths around obesity and weight loss were refuted, starting from calorie-restricted diets that stress the cells and end up in the accumulation of fat instead of weight loss. Mitochondria are the energy-producing organelles of our cells. We inherit our mother’s mitochondria and therefore any mutations she carries are very likely to be passed on to the offspring. This is the idea behind three-parent babies, so that mitochondrial dysfunctions, such as the ones causing obesity, are not passed on to the next generations. Another factor is the problematic communication between nuclear and mitochondrial DNA that collaborate for the production of energy. Finally, exercise is important to maintain energy balance but is not enough to compensate for the genetic predisposition that obese people might have.
The second talk was related to people with deformities, such as hip dysplasia and osteoarthritis caused by dwarfism. The latter is a very rare disease and it‘s hard to study in humans therefore scientists use mice. Two mutations are responsible for funny-shaped proteins, stressed cells and skeletal abnormalities, however the main observation is their difference in autophagy activity. Autophagy is the mechanism for controlled cell death when the cells cannot get rid of defective proteins. This study is ongoing at the moment, but it helped us gain some insight in mechanisms that are involved in many physiological functions and when disrupted they have detrimental effects on development.
At the end, the almost exclusively female audience really enjoyed the talk titled “Should we mate with old men?”. In this talk, we explored the importance of age of both men and women in reproduction. The prevalence of Down syndrome increases exponentially when the mother is older than 45-50 years old. However, paternal age is also a risk factor for intellectual disability, with men passing one more mutation for every year older (i.e. 40 mutations at the age of 40). Freezing sperm is popular in the media nowadays, but we are not there yet. It is unknown why the consequence of mating with old men is intellectual disability, but it is possibly because brain function depends on numerous genes therefore there is a higher chance that it will be affected.
As you may have realised already, “pint of science” is an annual celebration of scientific development, with scientists organising informative sessions that aim to give the public a better understanding of the human body and resolve its mysteries with evidence. Join us next year to find more about the wonderful world of science!