Mitochondrial Support for Down Syndrome: What You Need to Know

There's nothing better than seeing your little one growing, exploring her environment, and thriving. Our hopes and dreams are for the very best for our children but some of us find ourselves awake at night, unable to sleep, worrying about our child's future.

We worry about if they'll make friends and if they'll do well in school. We worry about the opportunities that will be available to them once they enter adulthood. We worry if they'll be able to care for themselves. We worry if they'll be able to find someone to love and spend their lives with.

As parents of children with Down syndrome, we especially worry about their health... a lot. We find ourselves being extra vigilant concerning our children's health and wellness since they, so often, have additional needs that typical children may not have.

One of the areas, in which we need to pay extra attention, is in supporting the mitochondria of individuals with Down syndrome.

What are Mitochondria?

Mitochondria are organelles, tiny organs, found within the nucleus of all cells of the human body. Red blood cells are the only cells in the body that do not have mitochondria (but they also don't have a nucleus either). Mitochondria are usually described as the powerhouse of the cell because they are responsible for producing the energy that the body needs to function.

They take the sugars, fats, and proteins that we eat and turn them into energy that the body can use. They produce approximately a whopping 90% of the chemical energy that the body needs to survive [1]! Life as we know it just isn't possible without mitochondria.

Mitochondria also play a less than desirable role in creating oxidative stress or free radicals in the body. Hey, all that energy making comes at a price!

As these tiny powerhouses create the energy that our bodies will use, atoms with unpaired electrons, also called free radicals are formed.

Free radicals are so damaging because they are highly reactive. Atoms with unpaired electrons are unstable. They try to find another electron to balance themselves out. So free radicals, in their search to gain another electron, can react with DNA or the cell membrane causing instability, damage, or even destruction.

Clearly, reducing free radicals is paramount to staying as healthy as possible.

So why do people with Down syndrome need extra mitochondrial support?

Unfortunately, people with Down syndrome have increased levels of oxidative stress, structural mitochondrial dysfunction, and metabolic dysfunction [2]. This means that Down syndrome causes changes on the cellular level which makes creating energy and getting rid of free radicals more difficult.

In fact, people with Down syndrome have more oxidative stress (free radicals) because of the extra copy of chromosome 21. Chromosome are bundles of DNA and proteins that carry genes. The gene that encodes for superoxide dismutase 1 or SOD1 is found on chromosome 21.

SOD1, is a powerful enzyme that produces hydrogen peroxide (H2O2) from the superoxide anion (O2-). Typical individuals have two copies of the gene that encodes for superoxide dismutase. Individuals with Down syndrome have three.

This extra gene causes over expression, or too much creation, of the superoxide dismutase enzyme. This over expression leads to increased hydrogen peroxide production which causes disorders ranging from premature aging to dementia.

Other proteins involved with the 21st chromosome include transcription factor Ets-2, stress inducing factors (DSCR1) and the precursor of beta-amyloid protein which is responsible for the formation of amyloid plaques in Alzheimer disease [3]. Unfortunately, over 50% of people with Down syndrome will develop Alzheimers by age 50-60.

Many of the proteins mentioned above are involved in the management of mitochondrial function which is compromised in individuals with Down syndrome.

This is why it is crucial to support the mitochondria of individuals with Down syndrome.