Your Mitochondrial DNA (mtDNA) OR nuclear (nDNA) can have
defects that cause mitochondrial disease.
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Inheritance: Here's how it works, in a Ms. Pacman sort
of way. : ) I got most of this information from Dr.
Korson's slide presentation at UMDF Symposium, and this
is my interpretation of the 5 ways you can get mito.
1. Happens in a small # of cases:
SPORADIC OCCURRENCE:
This is what I call the bad luck method of inheritance.
It just pops up from nowhere. Interference in some genes
causes mitochondrial dysfunction.
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2. Estimated 25% (or so) of cases.
MATERNAL INHERITANCE:
Mitochondrial DNA (mtDNA) NOT nuclear (nDNA). So here,
mom is affected. Mom passes it on to all kids. Daughters
keep passing it on. Males get mito from mom, but they
don't pass it on to offspring.
Phenotype in offspring with mtDNA mutations can be
extremely variable, but there's usually an obvious pattern
on mom's side.
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Affected person MAY or MAY NOT have affected siblings.
Rarely are there affected members in previous generations.
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3. Estimated 75% of mitochondrial disorders are caused
by mitochondrial defects in the Nuclear DNA.
AUTOSOMAL RECESSIVE INHERITANCE:
Nuclear (nDNA) NOT Mitochondrial DNA (mtDNA). So here,
parents are non-symptomatic carriers. 25% or 1 in 4
is the recurrence risk in every pregnancy.
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"Dominant" means that having a mutation in just one
of the two copies of a particular gene is all it takes
for a person to have mito.
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4. Estimated 75% of mitochondrial disorders occur from
mitochondrial defects in the Nuclear DNA.
AUTOSOMAL DOMINANT INHERITANCE:
Nuclear (nDNA) NOT Mitochondrial DNA (mtDNA). One parent
has a dominant gene mutation and passes it on 50% of
the time to boys and girls alike.
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Males are more affected than females. Females are rarely
affected.
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5. Estimated 75% of mitochondrial disorders occur from
mitochondrial defects in the Nuclear DNA.
X-LINKED INHERITANCE:
Nuclear (nDNA) NOT Mitochondrial DNA (mtDNA). Carrier
females pass on the affected gene to 1/2 offspring.
The daughters of affected males are usually carriers.
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