Mitochondrial Diseases Symptoms and Treatment

Mitochondrial diseases are a set of chronic, clinically heterogeneous, genetic diseases caused due to the malfunctioning of the mitochondria (the mitochondria of the cell fail to produce enough energy for cell functioning), the “powerhouses” of the cells that make up the human body. Mitochondria form the key part of all the various cells of the human body except for the blood cells. Mitochondria function by converting the energy of the ingested food into ATP (Adinosine Tri Phosphate) which aids in powering all cellular functions. While some mitochondrial diseases may only affect a single organ, some may leave an adverse affect on multiple organs or organ systems.

Genetics or mutations, acquired or inherited in the mitochondrial DNA (mtDNA) trigger mitochondrial diseases. These mitochondrial DNA mutations occur due to a low mutation rate capability of the mtDNA.

Unlike nuclear DNA, Mitochondrial DNA are strictly inherited from the mother and each mitochondrion typically contains multiple mtDNA. During cell division, each mitochondrial DNA divides itself into two new mitochondria which undergo further division. Even a few defective mtDNA copies can thus trigger a mitochondrial disease.

Classical mitochondrial diseases are usually caused by genetic anomalies or mitochondrial respiratory pathway deficits and occur in a subset of patients with autism. Mitochondrial diseases can also be the outcome of an artificially acquired mitochondrial dysfunction caused due to the adverse effects of drugsinfections or due to other environmental causes.

Symptoms of Mitochondrial Diseases

Depending upon the area in which the cells are affected, symptoms may vary including loss of motor control, gastro-intestinal disorders and swallowing difficulties, poor growth, liver disease, cardiac disease, diabetes, muscle weakness and pain, respiratory complications, seizures, lactic acidosis, developmental delays visual/hearing problems, and susceptibility to infection. Following are some more symptoms that are experienced by patients suffering from mitochondrial diseases worldwide:

Encephalopathy (seizures, developmental delay or regression, myoclonus, movement disorders, complicated migraine, stroke)


Cardiac conduction defects or cardiomyopathy

Hearing Deficits

Short Stature

Disorders of extra-occular muscles (ptosis, acquired strabismus and ophthalmoplegia)


Renal tubular disease

Visual Loss (retinitis pigmentosa, optic atrophy)

Lactic Acidosis

Other disorders caused by malfunctioning of the mitochondria include poor growth, loss of muscular coordination, muscle weakness, visual and aural disorders, learning disabilities, mental retardation, cardiac, liver and kidney diseases, gastrointestinal and respiratory disorders, neurological problems, autonomic dysfunction and dementia.

Diseases of the mitochondria cause the heaviest damage to the cells of organs and organelles like that of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems. Some common mitochondrial diseases include but are not limited to anemiadementiahypertensionlymphomaretinopathy, dystonia, dyskinesias, chorea and neuro-developmental disorders.

Treatments for Mitochondrial Diseases

Treatment options for mitochondrial diseases are currently very limited with only membrane penetrating anti-oxidants, spindle transfer and vitamins being frequently prescribed.

Spindle transfer is where nuclear DNA is transferred from a defective mitochondrion cell to another healthy cell.

The subject of treatment of diseases caused due a dysfunction of the mitochondria is a subject of research under progress. It is being researched by doctors worldwide.

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