Mitochondrial Disease Associated with Offspring Development

Mizrahi Abijah^*
*Correspondence: Mizrahi Abijah, Pediatric Neurology Department, Sheba Medical Center, Tel Hashomer, Israel, Email:

Mitochondria are commonly known as power house because the main function is to produce energy. That’s why more no of mitochondria are needed to make more energy, especially for high-energy demand organs such as the heart, muscles, and brain. Mitochondrial sickness can effect a wide scope of indications, including exhaustion, shortcoming, metabolic strokes, seizures, cardiomyopathy, arrhythmias, diabetes mellitus, impedance of hearing, vision, development, liver, gastrointestinal, formative or intellectual incapacities, diabetes mellitus, debilitation of hearing, vision, development, liver, gastrointestinal or kidney capacity, and that's only the tip of the iceberg. It’s all Depend on the types of cells within the body have disrupted mitochondria, different symptoms may occur. Mitochondrial disease is defined as a group of disease that affect the mitochondria and also known as mitochondrial syndrome, which are small compartments that are present in almost every cell of the body

It could be of many different conditions with a range of different symptoms. It simply occurs due to a small defect in genes of mitochondrial cells, which produces the energy that is essential for our body metabolism. It is a genetic disorder and sometime it run in families also. Because of Changes in these mitochondrial genes it directly affects the cellular level energy production. In this way any organ can be affected by mitochondrial disease, are more likely to show the symptoms mitochondrial disorders on that organs which have greater demand for energy (i.e., central nervous system, cardiac and skeletal muscle and the endocrine organs). At present there is no permanent cure for mitochondrial disease. Almost this syndrome affects between 1 in 6,000 and 1 in 8,000 live births, making mitochondrial disease nearly as common as childhood cancer. Person though, these conditions are very less in number.

Typical these disorders involve Multi-organ. It can span from severe, starting at birth, to mild disease that doesn’t become evident until adulthood. Sometimes it can emerge abruptly when the child is challenged by another illness. The heritage of these diseases does not follow the rules of Mendelian generics because there are large irregular shifts at the mtDNA mutation level between parent and offspring and these all shift occurs in first three weeks of embryo formation.

We already know that it is a genetic disorder that’s why the diagnosis is complex usually it is done by taking a muscle samples, where the number of mitochondrial organelle is highest. Southern blot, Polymerase chain reaction and gene sequencing these are the technics used for detection.

And treatment options for mitochondrial disease are very limited if the evidence of effectiveness is limited vitamins are frequently prescribed and in 2017 pyruvate is also proposed for treatment. According to sources Australian Senate's Senate Community Affairs References Committee gives legal permission for mitochondrial replacement therapy in June 2018 for treatment of disease.

In MRT, a nuclear DNA is transferred to another healthy egg cell leaving the defective mitochondrial DNA behind, is an in vitro treatment procedure. A small research in children with mitochondrial disease show that there are 221 cases affected by mitochondrial diseas. Of these, 14% of cases died three to nine years after diagnosis. In five cases lived less than three years, and three cases lived longer than nine years.

References

1. Khan, Nahid Akhtar, Periyasamy Govindaraj, Angamuthu Kannan Meena, and Kumarasamy Thangaraj. "Mitochondrial disorders: challenges in diagnosis & treatment." The Indian journal of medical research                    141, no. 1 (2015): 13.
2. Chinnery, Patrick F., Neil Howell, Richard M. Andrews, and Douglass M. Turnbull. "Clinical mitochondrial genetics." Journal of medical genetics 36, no. 6 (1999): 425-436.
3. Naviaux, Robert K. "Developing a systematic approach to the diagnosis and classification of mitochondrial disease." Mitochondrion 4, no. 5-6 (2004): 351-361.