What is also peculiar to MtDNA is the fact that this DNA is maternally inherited – males and females

inherit a copy of MtDNA from their mother. Nuclear DNA, on the other hand, is inherited equally from
both parents; a child will inherit 50% of their nuclear DNA from the mother and the other 50% from their
father.

A MtDNA copy is passed down entirely unchanged, through the maternal line. Males cannot pass their
MtDNA to their offspring although they inherit a copy of it from their mother.

This mode of inheritance is called Matrilineal or Mitochondrial Inheritance. There are a mitochondrial
DNA testing services available which can help determine maternal lineage or whether the people tested
share the same maternal line. Lineage DNA testing using MtDNA is ideal for testing ancient biogenetic
origins and tracing one’s unique lineage. For instance, scientists have used MtDNA to compare the DNA
of living humans of diverse origins to build evolutionary trees. MtDNA analyses suggest humans
originated in Africa, appeared in one founding population some 170,000 years ago, then migrated to
other parts of the world.

Mitochondrial Diseases

The severity of a mitochondrial disease in a child depends on the percentage of abnormal (mutant)
mitochondria in the egg cell that formed him or her. Credit: MDA.org

The severity of a mitochondrial disease in a child depends on the percentage of abnormal (mutant)
mitochondria in the egg cell that formed him or her. Credit: MDA.org

If there are any abnormalities in the mother’s mitochondria, they will be inherited by her offspring but if
the father has abnormal mitochondria, he will not pass on the defect to his children since males do not
pass on their MtDNA. Mitochondrial DNA plays such a pivotal role in providing the cell with energy that
ineffective MtDNA functioning can lead to the cell malfunctioning or cellular death altogether. The areas
that are mainly affected by MtDNA diseases include brain, heart, liver, skeletal muscles, kidney and the
endocrine and respiratory systems.

Cause:

Around 15% of mitochondrial diseases are due to a defect in the mitochondrial DNA itself. This defect
can arise due to any number of external factors like exposure to harmful radiation, toxins, etc. or due to
internal mix up by the cell. The majority of mitochondrial diseases are due to a defect in the nuclear DNA
that controls the synthesis of mitochondrial proteins. A small but significant percentage of mitochondrial
diseases are not inherited but acquired.
Since mitochondria are present in all types of cells, except red blood cells, a defect in one type of
mitochondrial gene may produce an abnormality in the brain whereas, in another individual, it may
produce a disease in the kidneys.

Types:

Since mitochondria are so widespread in the body and control incredibly diverse functions, the diseases
of the mitochondria are just as diverse.

They most commonly cause neuromuscular diseases called mitochondrial myopathies that have typical
symptoms of muscular weakness, loss of tone and restricted movement as well as sensory loss and loss
of motor control.

Others include:

Leigh Syndrome: It presents with seizures, memory loss, and respiratory failure.

Leber’s Hereditary Optic Neuropathy: There is a progressive loss of vision due to nerve damage. It leads
to blindness in both eyes.

Wolff-Parkinson-White Syndrome: It is a disease of the heart in which conduction defects occur.

Diabetes and Deafness- This is a combination of both diabetes mellitus and deafness that occurs due to
mitochondrial disease.

Other diseases include abnormalities of the muscles in the gastrointestinal tract, limbs, heart, lungs, etc.

Overall, there is muscle weakness, poor growth, and visual and memory loss. Other organ systems may
also be involved resulting in heart diseases, lung diseases, kidney diseases, disturbed bowel movements
and liver problems, brain damage and hearing loss. Studies have also found links between certain
cancers and MtDNA – they have linked the two via by-products known as reactive oxygen species (ROS)
produced by MtDNA. Mitochondrial diseases are an intensive and diverse group of inherited or acquired
defects that cause mild to severe organ damage and dysfunction resulting in a poor quality of life. They
do not have a cure and are progressive, often leading to death.
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Medical Definition of Mitochondrial inheritance

Medical Author: William C. Shiel Jr., MD, FACP, FACR

Reviewed on 12/12/2018

Mitochondrial inheritance: The inheritance of a trait encoded in the mitochondrial genome. Because of
the oddities of mitochondria, mitochondrial inheritance does not obey the classic rules of genetics.
Persons with a mitochondrial disease may be male or female but they are always related in the maternal
line and no male with the disease can transmit it to his children.

The mitochondria are normal structures or organelles in cells. They are located in the cell's cytoplasm
outside the nucleus.

The mitochondria are responsible for energy production. They consist of two sets of membranes, a
smooth continuous outer coat and an inner membrane arranged in tubules or in folds that form plate-
like double membranes (cristae). The mitochondria are in fact the principal energy source of the cell
(thanks to the cytochrome enzymes of terminal electron transport and the enzymes of the citric acid
cycle, fatty acid oxidation, and oxidative phosphorylation). The mitochondria convert nutrients into
energy as well as doing many other specialized tasks.

Each mitochondrion has a chromosome that is made of DNA (mitochondrial DNA or mtDNA) but is
otherwise quite different from the better known chromosomes in the nucleus. The mitochondrial
chromosome is much smaller. It is round (whereas the chromosomes in the nucleus are shaped like
rods). There are many copies of the mitochondrial chromosome in every cell (whereas there is normally
only one set of chromosomes in the nucleus). Mitochondrial DNA contains 37 genes which all are
essential for normal function of the mitochondria. Many genetic conditions are related to changes in
particular mitochondrial genes.