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Mitochondrial Disease

Mitochondrial disease is usually inherited and show through a variety of symptoms, with limited curable possibilities.


Mitochondrial Disease

Mitochrondrial Disease Ribbon

Mitochondrial Disease Causes, Symptoms And Treatment

Summary: Mitochondrial disease is usually inherited and show through a variety of symptoms, with limited curable possibilities.
Mitochondrial disease is caused by inherited or acquired gene mutations of mitochondrial DNA, which are responsible for converting food and oxygen into energy. These diseases are genetic in nature and be without any typical symptoms also. It is also caused by mitochondrial dysfunction which is acquired because of side effects of certain drugs, environmental conditions and infections. Such diseases only become apparent once the total population of affected mitochondria reaches their threshold expression. Another defined cause for such diseases is defective enzymes that are responsible for DNA replication of the mitochondrial type.
Developmental delays, muscle weakness and heart problems are typical mitochondrial disease. Additionally, there may be mitochondrial myopathy or neuromuscular disease caused by mitochondrial damage. It is generally observed that the brain and the body’s muscular system, which require larger amounts of energy stand to be most effected when struck by mitochondrial disease. Such known myopathies include myoclonus epilepsy, Kearns-Sayre syndrome, mitochondrial encephalomyopathy, lactic acidosis and even stroke. The other symptoms are: heart failure or irregular cardiac rhythm, mobility disorders, deafness, droopy eyelids and even blindness, seizures and vomiting.

Mitochondrial Disease prognosis

Mitochondrial disease prognosis depends on the severity of the conditions ranging from gradual weakness to even death. A majority of mitochondrial myopathies start before the patient is twenty years of age and muscle weakness accompanied by cramps and intolerance to exercise are the first symptoms. Breathlessness, nausea and  headaches are also seen in the early stages.
Mitochondrial disease, particularly myopathy has no definite cure or treatment. Physiotherapy is known to improve muscle strength and movement. Vitamins like riboflavin, carnitine amino acids  and coenzyme Q are also given in suitable doses to eliminate fatigue and to improve energy levels. The good news is that even though treatment for mitochondrial disorders are still palliative, extensive research is going to find definite cures. Antioxidants with membrane penetrating abilities are known to improve mitochondrial dysfunction and as a drug,Pyruvate has been in use recently as a suitable treatment option.
In an era of stem cell treatment and genetic engineering, spindle transfer is being used to treat mitochondrial disease. Here, the nuclear DNA is promptly and successfully transferred to a neighboring egg cell which is healthy thus weeding out the defective or troublesome mitochondrial DNA. This of course, has been tried successfully on monkeys and human trials are yet to be held. A pronuclear transfer process has been tried on healthy women with human eggs being transferred to them from women suffering from mitochondrial conditions. Similarly, infertility in women having genetic defects too, is being treated in order to enable them to conceive.

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