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Mitochondrial Disorder

Mitochondrial disease occurs when mitochondria fail to produce sufficient energy for the body and can affect multiple organ systems. It has a variety of inheritance patterns and symptoms depend on the organs affected but can include seizures, developmental delays, and inability to walk or talk. While there are no cures, treatment focuses on managing symptoms and slowing disease progression. Mitochondrial diseases remain difficult to diagnose due to variability in presentation and limitations in genetic testing.

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Roxie May Theresse Abagatnan
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139 views3 pages

Mitochondrial Disorder

Mitochondrial disease occurs when mitochondria fail to produce sufficient energy for the body and can affect multiple organ systems. It has a variety of inheritance patterns and symptoms depend on the organs affected but can include seizures, developmental delays, and inability to walk or talk. While there are no cures, treatment focuses on managing symptoms and slowing disease progression. Mitochondrial diseases remain difficult to diagnose due to variability in presentation and limitations in genetic testing.

Uploaded by

Roxie May Theresse Abagatnan
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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ABAGATNAN, Roxie May Theresse T.

BS Psych 3A 9/19/2020

Mitochondrial Disorder

We all have mitochondria. It stores energy or the powerhouse of the cell. It also
responsible for creating 90% of the energy needed to sustain life and support organ function.
When mitochondria malfunction, organs start to fail. People get sick and even die. The parts of
the body, such as the heart, brain, muscles and lungs, requiring the greatest amounts of energy
are the most affected.  Mitochondrial disease is difficult to diagnose, because it affects each
individual differently. Symptoms can include seizures, strokes, severe developmental delays,
inability to walk, talk, see, and digest food combined with a host of other complications. If three
or more organ systems are involved, mitochondrial disease should be suspected.

Mitochondrial diseases are chronic (long-term), genetic, often inherited disorders that occur
when mitochondria fail to produce enough energy for the body to function properly. (Inherited
means the disorder was passed on from parents to children.) Mitochondrial diseases can be
present at birth, but can also occur at any age. They can be caused by mutation of genes
encoded by either nuclear DNA or mitochondrial DNA (mtDNA). While some mitochondrial
disorders only affect a single organ (e.g., the eye in Leber hereditary optic neuropathy [LHON]),
many involve multiple organ systems and often present with prominent neurologic and
myopathic features.Problems with mitochondrial function, however, may only affect certain
tissues as a result of factors occurring during development and growth that we do not yet
understand. Even when tissue-specific isoforms of mitochondrial proteins are considered, it is
difficult to explain the variable patterns of affected organ systems in the mitochondrial disease
syndromes seen clinically. Mitochondrial diseases are even more complex in adults because
detectable changes in mtDNA occur as we age and, conversely, the aging process itself may
result from deteriorating mitochondrial function. There is a broad spectrum of metabolic,
inherited and acquired disorders in adults in which abnormal mitochondrial function has been
postulated or demonstrated.

In most people, primary mitochondrial disease is a genetic condition that can be inherited
(passed from parents to their children) in several ways. To understand inheritance types, it’s
helpful to learn more about genes and DNA. Genes are substances that give us our traits, such
as brown eyes or blue eyes. Genes contain DNA, which is the “blueprint” that gives each person
their unique makeup. Under normal circumstances, a child inherits genes in pairs -- one gene
from the mother and one from the father. A child with a mitochondrial disease does NOT
receive a normal pair of genes from the parents.

Inheritance types are:

 Autosomal recessive inheritance: This child receives one mutated copy of a gene from
each parent. There is a 25% chance that each child in the family will inherit a
mitochondrial disease.
 Autosomal dominant inheritance: This child receives one mutated copy of a gene from
either parent. There is a 50% chance that each child in the family will inherit a
mitochondrial disease.

 Mitochondrial inheritance: In this unique type of inheritance, the mitochondria contain


their own DNA. Only mitochondrial disorders caused by mutations in the mitochondrial
DNA are exclusively inherited from mothers. If this is the way a mitochondrial disease
was inherited, there is a 100% chance that each child in the family will inherit a
mitochondrial disease.

 Random mutations: Sometimes genes develop a mutation of their own that is not
inherited from a parent.

Diagnosis/testing.

In some individuals, the clinical picture is characteristic of a specific mitochondrial disorder


(e.g., LHON, NARP, or maternally inherited LS), and the diagnosis can be confirmed by
identification of a pathogenic mtDNA variant on molecular genetic testing of DNA extracted
from a blood sample. In many individuals, such is not the case, and a more structured approach
is needed, including family history, blood and/or CSF lactate concentration, neuroimaging,
cardiac evaluation, and molecular genetic testing for a mtDNA or nuclear gene pathogenic
variant. Approaches to molecular genetic testing of a proband to consider are serial testing of
single genes, multigene panel testing (simultaneous testing of multiple genes),
and/or genomic testing (e.g., sequencing of the entire mitochondrial genome, genome
sequencing, or exome sequencing to identify a pathogenic variant in a nuclear gene). In many
individuals in whom molecular genetic testing does not yield or confirm a diagnosis, further
investigation of suspected mitochondrial disease can involve a range of different clinical tests,
including muscle biopsy for respiratory chain function.

Causes

Mitochondrial disorders can be caused by mutation of nuclear DNA or mitochondrial DNA


[Koopman et al 2012].

The classification of mitochondrial disease is difficult. Although a purely clinical classification


can be helpful (Table 1), many individuals do not fall into one specific disease category. The
situation is made all the more complex by the poor correlation
between genotype and phenotype. For example, among a group of clinically indistinguishable
individuals with external ophthalmoplegia, some may have a large deletion of mtDNA, others a
single nucleotide variant of mtDNA (e.g., m.3243A>G), and still others
a heterozygous pathogenic variant in a nuclear gene causing secondary mtDNA abnormalities
(e.g., ANT1 pathogenic variants).
Other Investigations to Establish the Extent of the Phenotype

When the clinical picture is nonspecific but highly suggestive of a mitochondrial disorder, the
clinician should start with measurement of plasma or CSF lactic acid concentration, ketone
bodies, plasma acylcarnitines, and urinary organic acids.

Treatment of manifestations: The management of mitochondrial disease is largely supportive


and may include early diagnosis and treatment of diabetes mellitus, cardiac pacing, ptosis
correction, intraocular lens replacement for cataracts, and cochlear implantation for
sensorineural hearing loss. Individuals with complex I and/or complex II deficiency may benefit
from oral administration of riboflavin; those with ubiquinone (coenzyme Q 10) deficiency may
benefit from oral coenzyme Q10 therapy; and those with mitochondrial neurogastrointestinal
encephalomyopathy (MNGIE) may benefit from hematopoietic stem cell transplantation.

In conclusion, mitochondrial disease is rare. If not treated properly it may cause other
complication in our body. Mitochondria are very important to our system. Mitochondrial
disease has no limit it can really affect any parts of our body. Also, it is inherited from parents
and we cannot blame them because of having this kind of disease. Mitochondrial dysfunction is
also seen in a number of different genetic disorders. To add on, there are
no cures for mitochondrial diseases, but treatment can help reduce symptoms or slow the
decline in health. Treatment varies from patient to patient and depends on the
specific mitochondrial disease diagnosed and its severity.

Reference:

Mitochondrial Diseases: Causes, Symptoms, Diagnosis & Treatment. (n.d.). Retrieved


from https://my.clevelandclinic.org/health/diseases/15612-mitochondrial-diseases

Chinnery, P. F. (2014, August 14). Mitochondrial Disorders Overview. Retrieved from


https://www.ncbi.nlm.nih.gov/books/NBK1224/

What is Mitochondrial Disease? (2018, October 01). Retrieved from


https://www.umdf.org/what-is-mitochondrial-disease/

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