What causes Mitochondrial disease or Mitochondrial disorder??
The answer is very simple. Mitochondrial diseases or disorder are cause by mutations in the Mitochondria DNA. From the previous post, we learned that Mitochondria DNA contains the genetic sequence that code for all the proteins require for the mitochondria to work properly. When a mutation occur, the amino acid synthesized may be different, thus, changing the 3D shape of the proteins needed for the mitochondria to function efficiently. Since mitochondrial diseases are cause by mutation in the Mitochondria DNA, different mutation at different genes will cause different disorders. Hence, there are many types of mitochondrial diseases.
Here are some mitochondria diseases:
-NADH dehydrogenase (NADH-CoQ reductase) deficiency
-Leigh Syndrome
-Alpers Huttenlocher syndrome
NADH Dehydrogenase (NADH-CoQ reductase) Deficiency:
NADH dehydrogenase deficiency is also known as Complex I deficiency. It is the most common site for mitochondrial abnormalities. Since Complex I is located at the Electron Transport Chain(ETC), when mutation occur, the process of oxidation phosphorylation will be greatly affected. Hence, the amount of ATP the cells is able to synthesize is very low.
NADH Dehydrogenase Deficiency cause a variety of clinical symptoms, especially for the organs and tissue that require large amount of ATP. Some examples are the brain, liver and muscles. In Additional, this disorder also cause progressive neurodegenerative disorders.
There are three major forms of this disease: Myopathy (muscle disease), Mitochondrial encephalomyopathy (brain and muscle disease), Fatal infantile multisystem disorder
Myopathy: Symptom can start occuring in childhood and adulthood. Symptoms include weak body and exercise intolerance.
Mitochondrial Encephalomyopathy: Symptom can start occuring in childhood and adulthood. Symptoms include eye muscle paralysis, sensory neuropathy (nerve damage involving the sense organs), seizures and ataxia (abnormal muscle coordination). Can lead to cause Leigh Syndrome.
Fatal infantile multisystem disorder: Symptoms include poor muscle development, developmental delay, heart disease and respiratory failure.
Leigh Syndrome:
Leigh Syndrome is a severe neurodegeneative disease that occur during the first year of life. This disease cause progressive loss of mental and movement abilities which results in death within a couple of years due to respiratory failure.
Some clinical symptoms frequent vomiting, diarrhea, and difficulty swallowing infants. Hence, affected patients have inability to to grow normally. In addition, Severe muscle and movement problems are common in Leigh syndrome.
Alpers Huttenlocher Syndrome:
Alpers-Huttenlocher syndrome is a disease cause by mutations in the POLG gene. This disease has a range of similar symptoms involving muscle tissues and brain tissue. Symptoms of Alpers-Huttenlocher syndrome usually appear in children between age from 2 to 4. Symptoms include recurrent seizures, brain related problems and uncontrollable muscle coordination.
Treatment and Therapies
Can Mitochondrial disease be cure??
Currently, there is no cure for mitochondria disease. Treatments and Therapies can only help to alleviate and slow down the progression of these diseases. As there are many different type of mitochondrial diseases, treatments and Therapies varies from patient to patient, depending on the exact disorder that occur in the patient.
Okay, today I will be stopping here. If you have any questions or want to know more about the diseases that are mention above, feel free to put your comment below. Bye!! Happy new year to you guys
References:
http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934635
http://ghr.nlm.nih.gov/condition/leigh-syndrome
http://ghr.nlm.nih.gov/condition/alpers-huttenlocher-syndrome
http://www.umdf.org/site/pp.aspx?c=8qKOJ0MvF7LUG&b=7934629
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