Facts about the Mitochondrial myopathies, one of the degenerative diseases

Mitochondrial Myopathy is one of the neuromuscular diseases. This type of body condition arises when a person’s intracellular structures get damaged. This leads to muscular contractions that are weak, causing hindrances in producing energy. No specific treatment is available for this disease.

What you must know about Mitochondrial Myopathies? ---a brief knowledge of the disease

Mitochondrial Myopathies is a group of diseases, affecting neuro-muscles. The disease causes damage to the mitochondria, which is the structured source of energy for our cells. Nerve cells in our muscles as well our brain need a considerable amount of energy. So to keep supplying energy mitochondria must remain healthy. But, in case of any occurrence of any type of its dysfunction, our cells will not get required amount of energy, resulting to un-repairable damage to our brain functioning and muscular contraction.

Diagnosis & prognosis of Mitochondrial Myopathy

The type of the disease determines its prognosis. Generally this disease is progressive and fatal in nature that causes even death. Extensive researches are going on to find some treatment and know about the other aspects of the disease, but this relatively rare disorder has found few. The severity of the form of trouble determines the prognosis of this disorder. Many of the patients suffer this body condition even before they can attain their age of 20.

Symptoms of the disease

A patient with this disease will experience weakness or fatigues in their muscles. These patients may also have exercise intolerance. Cramping of muscles, although rare, but not impossible. Symptoms like muscle weakness, headache, rhythm disturbances or heart failure / breathlessness, movement disorder, dementia, seizures & vomiting, limited mobility of eyes, droopy eyelids, blindness, deafness and some type of strokes are associated with this problem.

What factors are responsible for this body disorder?

Most of the cell deaths, attached with the neurodegeneration, take place in the central mitochondrial apoptotic pathway. The activation of caspase-9 is controlled in this pathway. The controlling system regulates the release of Cytochrome C, which gets released from the mitochondrial IMS (intermembrane space). Normally, ROS (Reactive Oxygen Species) are the by-products of respiratory chain activities of mitochondrial. The mediation of ROS concentration is done by mitochondrial antioxidants such as glutathione peroxidase and manganese superoxide dismutase (SOD2). The central feature of every type of neurodegenerative disorder is over production of ROS. In this case, in addition to the over production of ROS, mitochondrial also remain involved with mitochondrial fission, calcium homeostasis, PCD, fusion, mitochondrial permeability transition and lipid concentration of the mitochondrial membranes. There is likelihood of neurodegeneration due to mitochondrial disease, at least on some level. As far as neurodegenerative disease pathogenesis is concerned, there is the involvement of a casual role, played by oxidative stress and mitochondrial dysfunction.

The common names related with the disease

Myoclonus epilepsy with ragged-red fibres, Kearns-Sayre syndrome, some types of Strokes and Mitochondrial Encephalo-myopathy with lactic acidosis are the commonly known diseases related to Mitochondrial Myopathies.


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