Myth
All mitochondrial diseases are known by acronym abbreviations
(e.g., MELAS, MERRF, NARP, LHON).
Fact
Acronyms were commonly used when these disorders were first
described. Today, the naming of mitochondrial disorders is
evolving. Mitochondrial disorders are currently named by any of the
following methods:
- By acronym descriptions (still in use although most people with
a mitochondrial disorder do not have an "acronymic-named"
disorder)
- By a name based on a person who described the disease
- By a name based on a specific genetic mutation
- By a name based on a microscopic description of tissue, or
- By a name based on the deficient enzyme
It is important to note that the labels given this disorder do not,
in and of themselves, predict the long-term outcome or alter
treatment.
Myth
Mitochondrial diseases are inherited only from your mother.
Fact
The current thinking is that most mitochondrial diseases are the
result of one or more complex inheritance patterns. Most
mitochondrial diseases are the result of mutations (changes) in DNA
located in the nucleus of the cell. Only mitochondrial disorders
caused by mutations in the mitochondrial DNA (a specific structure
in living cells, located outside the nucleus) are inherited
exclusively from mothers.
Another source of mitochondrial disorders that affects a large
percentage of patients is poorly functioning mitochondria that
become that way because of:
- another disease process (including other chromosomal
disorders)
- exposure to toxins or viruses
- other inherited genetic mutations that are not disease-causing
until "triggered" by some other genetic factor
Myth
Mitochondrial disease is a childhood disease.
Fact
Although mitochondrial disorders are commonly seen in infants and
children, they can occur at any age.
Myth
An individual with mitochondrial disease has mental retardation,
growth problems, and/or seizures.
Fact
Only some individuals have these developmental problems. Patients'
symptoms can range from extremely mild to severe, can involve one
or more body systems, and can emerge at any age. The brain,
muscles, heart, liver, nerves, eyes, ears, and kidneys are the
organs and tissues most affected. Most patients' symptoms fluctuate
over the course of their illness -- patients at some times
experience no or few symptoms, and at other times have many and/or
severe symptoms. Even family members with the same disorder can
experience vastly different symptoms.
Myth
Since mitochondrial diseases are incurable, no treatments can be
given to these patients.
Fact
Even though these disorders are long term and incurable, treatments
are available. Early treatment of symptoms can reduce their impact
and limit further disability. Avoiding certain medications and
stressful situations that worsen symptoms is also helpful. Certain
medications and supplements may improve mitochondrial
disease-related symptoms -- just as they do for other incurable
diseases -- such as diabetes and emphysema.