Download Mito Quiz Answers

Mito Quiz Answers
“Test Your Mito IQ”
Answers provided by Sumit Parikh, MD, Cleveland Clinic
1) Mitochondria are called mitochondria so what does this mean and what is their purpose?
The word mitochondria derives from the Greek mitos meaning "thread" and chondrion meaning "granule." They
are thought of as being primarily energy factories but they have a role in aging, cell death, cell signaling, activating the immune system and combating reactive oxygen species (chemically-reactive molecules containing
oxygen).
2) Are mitochondria in every cell of the body and how many are in each cell?
There are hundreds to thousands of mitochondria in every cell in the human body except for red blood cells.
3) Do mitochondria look and function the same in different organ systems?
Mitochondria have a different appearance and slightly different primary function depending on their location in
the body.
4) Are mitochondrial diseases considered rare or orphan diseases?
While primary mitochondrial disorders are thought of as being rare, they are present in at least 1 in 5000 individuals - which make them less rare than previously believed. A recent study showed that 1 in 200 healthy
infants carry a potential disease-causing mitochondrial DNA mutation though this does not mean that 1:200
infants will develop mitochondrial disease. The majority of these infants do not have a mutation affecting most
of their mitochondria, thus they will not develop disease.
5) Can someone spontaneously develop mitochondrial disease, and if so, how?
When we speak of primary mitochondrial disorders, these are typically genetic and either inherited or new
changes in the patient's DNA and something present from birth even though symptoms may present at any age
in life.
We know that certain environmental toxins and poisons as well as childhood and chronic diseases can injure the
mitochondria and create select mitochondrial symptoms - though these are not typically considered primary
mitochondrial disease but rather "secondary mitochondrial dysfunction."
6) What is adult onset mitochondrial disease?
Mitochondrial disease presenting in adulthood. Sometimes the symptoms begin all-at-once; sometimes "milder"
symptoms have been present for quite some time (diabetes, hearing loss) and not tied together until a more "red
flag" mitochondrial disease symptom occurs (stroke for example).
7) Which is the most common form of mitochondrial disease?
In truth, we do not completely know. Leigh syndrome is one of the most common type of pediatric onset mitochondrial disorders. MELAS is one of the most common adult-onset ones. However we need better research on
the prevalence and incidence of these conditions.
8) What is heteroplasmy and can it help determine severity of the disease?
Each cell has hundreds to thousands of mitochondria and each mitochondria has hundreds to thousands of
mitochondrial DNA (mtDNA) copies. All the mtDNA blueprint copies are not identical - some are “healthy” and
some are “unhealthy.” Heteroplasmy refers to this mixture of healthy and unhealthy copies of mtDNA impacting
how well each mitochondria work. A certain threshold of unhealthy mitochondria need to be present before
leading that organ to not work properly.
9) What can harm or hurt mitochondria?
Too many things can hurt mitochondria -> Poor diet, lack of exercise, too much alcohol and illicit drugs are the
most common culprits. Chemotherapy and radiation are others. Many medications can down-regulate mitochondrial function in a petri dish - but we do not yet know if they necessarily hurt mitochondria enough to
actually lead to symptoms; there are exceptions -> some - like valproic acid - can bring out inactive mitochondrial disease and select anesthetic agents may exacerbate symptoms. Inflammation and infections can impact
mitochondrial function but these are not always avoidable things.
10) What can help mitochondria function better?
Exercise, a healthy diet, and avoiding mitochondrial toxins are some things that improve mitochondrial function. There are components in red wine (resveratrol) and chocolate (epicathecin) that help. Other anti-oxidants
may but we do not have enough scientific evidence yet that they work for every patient.
11) Currently, how many mitochondrial-related clinical trials and/or studies are ongoing worldwide,
and which show the most promising results?
EPI-743 is the only medication currently in clinical trials for select types of mitochondrial disease. The North
American Mitochondrial Disease Consortium is a group of multiple centers in the country and led by Dr. Hirano at Columbia University that is advancing clinical research in mitochondrial disease as well. According to the
UMDF’s Decade of Difference, there are 305 clinical trials underway across the globe.
12) Realistically, when will break-throughs for treatments, and ultimately, cures happen?
We hope these changes occur soon. Mitochondrial disease is such a young field of medicine - with the 1st mitochondrial disease only identified in the 1960s and most of the research truly occurring in the last 20 years. In the
world of science, we have a long way to go. For comparison - we have known about diabetes since the BC times
and diseases like Alzheimers for 200+ years - and we can contrast how far these fields are in regards to disease
diagnosis, management and treatment (and these are diseases that receive much more research funding). But
with the help of the UMDF and a large number of dedicated clinicians and researchers we are moving in the
right direction.