"Genetics and Down Syndrome: What You Need to Know About Epigenetics"

Down For Health

🔍 Episode Snapshot:
This episode explores epigenetics—how factors like nutrition, stress, and sleep can influence how genes are expressed without changing the DNA itself. For individuals with Down syndrome, this matters deeply. While the extra chromosome in Trisomy 21 affects gene activity, we can use functional medicine to help modulate that activity and support better outcomes.

🧬 Genetics vs. Epigenetics—A Quick Primer

• Genetics: Your DNA is like a cookbook. Each gene is a recipe passed down from your parents.
• Epigenetics: Influences which recipes are used and how often—affected by things like diet, stress, sleep, and toxins.

Why it matters in DS:
Genes aren’t destiny. Epigenetics gives us tools to help offset common challenges like inflammation, cognitive delays, and accelerated aging.

📚 Down Syndrome & Epigenetic Challenges

• Trisomy 21 = 47 chromosomes, ~300 extra genes
• Impaired DNA methylation affects detox, cognition, and cellular repair
• Overactive genes on chromosome 21 can drive inflammation, oxidative stress, and cognitive changes
  • Examples: DYRK1A, RCAN1, SOD1, APP, CBS, IFNAR1/2

🔧 How Functional Medicine Helps
A personalized, root-cause approach can support healthy gene expression:

• Nutrients: B12, folate, choline, zinc
• Antioxidants: Glutathione, NAC, vitamins C & E
• Anti-inflammatory foods: omega-3s, Mediterranean-style diet
• Detox & lifestyle: reduce toxins, improve sleep, manage stress

🛠 Takeaways for Parents

• Focus on what you can change—food, environment, daily habits
• Small steps can shift gene expression in powerful ways
• Work with a provider trained in functional or integrative medicine

💡 Q&A Highlights
Can you “turn off” a gene? Yes—epigenetics acts like a dimmer switch.
Are changes permanent? Not to your DNA, but some effects can last long-term.
Too late to start? Never—it’s always the right time to support your child’s health.

💬 Final Thoughts
Genes load the gun. Environment pulls the trigger.
You have more influence than you think—and you don’t have to do it alone.

🔗 Helpful links: www.downforgreens.co

Sources:

• Yu, Y Eugene et al. “Genetic and epigenetic pathways in Down syndrome: Insights to the brain and immune system from humans and mouse models.” Progress in brain research vol. 251 (2020): 1-28. doi:10.1016/bs.pbr.2019.09.002
• Donovan, Micah G et al. “Variegated overexpression of chromosome 21 genes reveals molecular and immune subtypes of Down syndrome.” Nature communications vol. 15,1 5473. 28 Jun. 2024, doi:10.1038/s41467-024-49781-1
• Chapman, Laura R et al. “Gene Expression Studies in Down Syndrome: What Do They Tell Us about Disease Phenotypes?.” International journal of molecular sciences vol. 25,5 2968. 4 Mar. 2024, doi:10.3390/ijms25052968
• Xu, Keren et al. “Accelerated epigenetic aging in newborns with Down syndrome.” Aging cell vol. 21,7 (2022): e13652. doi:10.1111/acel.13652