Hello everyone,
How are you doing? I love understanding things in depth. On one hand, I am sometimes overwhelmed by the amount of things to unpick about our bodies, but the curiosity also keeps me going. Whilst I might have preferred my curiosity to be driven by something other than having this condition, I am grateful that figuring things out is taking me on a crazy journey of knowledge, which hopefully will help you in yours.
This is why I am dedicating this summer’s newsletters to genetics. When a condition like ours can’t be fully understood, we turn to genetics - and, most importantly, nutrigenomics.
Nutrigenomics = is the science studying the relationship between human genome, human nutrition and health. The purpose is to develop an understanding of how the body responds to food according to the genes makeup you carry, how does this affect your health and if, changes are made, if this can lead to better health outcomes.
How old is this science?
In 1988, a team of US researchers was given the incredible task of mapping the human DNA sequence for the Human Genome Project. By 2002, they had mapped 92% of the human genome with about 400 gaps. In 2022, science announced they had managed to cover those gaps, and we now know we have a complete genome. As you see, it hasn’t been long, so this is still very early.
However, the application of this knowledge is already making an impact. Dr. Jennifer Doudna won a Nobel Prize for the discovery of CRISPR/Cas9, a gene-editing technology that can be used to modify or correct precise regions of our DNA to treat serious diseases. This technology is currently approved and used for sickle cell disease or transfusion-dependent beta-thalassemia, two blood cell disorders.
I know this might sound scary and has serious ethical implications. However, the ability to correct threatening DNA-led diseases could truly make a difference in people’s lives. My immediate thought goes to those children who get diagnosed with cancer very early on. They deserve a chance to experience the joy of this world, and I hope technology like this can make it happen for them.
As soon as we knew the genome, we started looking at the relationship between our environment and our genes. Food, together with water and air, is the most important element in our environment that our bodies (our genes) interact with and are dependent on for survival.
How does knowing nutrigenomics impact our day to day?
With increasing changes to our food environment, it is clear people are becoming more prone to diet-related diseases. We can’t say for certain that PCOS can be caused by diet; however, we know that lifestyle modifications are the first interventions that work to ameliorate the condition, so there is a direct connection between our diets and our condition.
The most famous example of the application of nutrigenomics is lactose intolerance. Genetically, human genes no longer produce the enzyme required to break down lactose, which can lead to unpleasant symptoms. The same goes for gluten. Continuing to eat gluten despite our genes not being able to process it can have serious consequences for our health.
The question is: what are those genes for PCOS? Are there clear nutrient genes that can help us manage our condition?
The science of this is very early on. However, over the next months, we will discuss specific genes that can have a direct impact on our condition. This includes Vitamin D genes, Vitamin A genes, Folate, Iron genes, Appetite genes, etc.
We at the PCOS Clinic are on a mission to help people understand and manage their PCOS through nutrigenomics. Our first cohort for the genetics-based program is made up of only 7 people and will start on the 29th of September 2024. If you are ready to fully understand your body, sign up to our waiting list here.
My mission and what I am working towards with The PCOS Clinic is to help advance our understanding of this condition. The long-term aim is to publish research that can change the way we think about this condition and help more women live without fear, confusion and pain. Join me :).
Why is nutrigenomics important?
It explains why single nutrition recommendations will not fit everybody or even most humans. Nutrigenomics has helped me understand my body on a deeper level, so I don’t blame myself for not being able to follow specific eating patterns.
I will give you an example from my genetics:
LEPR gene - I hold a polymorphism on this gene.
The LEPR gene encodes the leptin receptor. Leptin is a hormone produced by fat tissue that tells your brain when you are satisfied so you stop eating. It travels through the bloodstream to the brain, binding to the hypothalamus's leptin receptors (LEPR). When leptin binds to LEPR, it activates several pathways to tell your brain that enough food has been consumed so you feel satisfied and not hungry.
Genetic variations in LEPR, like mine, can affect the function of the leptin receptor. Despite high levels of circulating leptin, the signalling is impaired, so I am not satisfied. This gene has been linked to hyperphagia—an excessive desire for food, especially in children.
Do you know people who say they are never full? I would love to examine their genes.
What can I do about it?
Unfortunately, I don’t react very well to extreme hunger, so intermittent fasting was never an option. While some people are fine with going for more extended periods of time without eating, I can’t. I found eating smaller portions more often is far more beneficial for my hunger levels and weight management, so my leptin levels don’t go out of the hack. I don’t get into this zone of I can eat anything I see. Understanding your make-up is far more important than following the latest diet.
We will explore this specific gene in depth later, but I wanted to give you an example.
I hope you have enjoyed getting to know this side of PCOS Management. We are about to embark on an exciting understanding of why our body behaves the way that it does through the lenses of genetics. I hope it offers some answers to your questions about your body and condition. I understand genetics can also be scary, so I will chat about that next week.
See you next Sunday,
Francesca
References
Chaves, C., Kay, T., & Anselmo, J. (2022). Early onset obesity due to a mutation in the human leptin receptor gene. Endocrinology, Diabetes & Metabolism Case Reports, 2022. https://doi.org/10.1530/edm-21-0124
Corgosinho, F. C., Almeida, S. S., Tock, L., Pesquero, J. B., Araújo, R. C., Clemente, A. P. G., Dal’Molin Netto, B., da Silveira Campos, R. M., Masquio, D. C. L., de Carvalho Ferreira, J. P., de Lima Sanches, P., de Piano Ganen, A., Rogero, M. M., Oyama, L. M., Tufik, S., de Mello, M. T., & Dâmaso, A. R. (2017). LEPR polymorphism may affect energy balance during weight loss among Brazilians obese adolescents. Neuropeptides, 66, 18–24. https://doi.org/10.1016/j.npep.2017.07.007
Gene editing. (n.d.). CRISPR Therapeutics. Retrieved 26 June 2024, from https://crisprtx.com/gene-editing
Human genome project. (n.d.). Genome.gov. Retrieved 26 June 2024, from https://www.genome.gov/about-genomics/educational-resources/fact-sheets/human-genome-project
Disclaimer: We are all unique in our ways, so this information is for educational purposes only. In my communications, I summarise research data and bring my experience. This shouldn’t be viewed as medical advice at any point. Please further consult your healthcare provider about your health needs.