Essay On Mitochondrial Disease

Every 30 minutes, a child with a high possibility to develop mitochondrial disease is born. Mitochondrial disease affect mitochondria which are specialized compartments present in every cell of our body except in red blood cells. They are responsible for 90% of energy production in our body. If mitochondria failure occurs less energy is produced in the cell, this leads to cell injury and in some cases to cell death. If the process continues, our whole body is severely affected. Mitochondrial disease affects mostly children but in the last few years this disease is also started affecting adults. It mostly affects the cells of the brain, heart, liver, skeletal muscles, kidney and the endocrine and respiratory systems and the symptoms it causes involve muscle weakness, loss of motor control, gastro-intestinal disorders, learning disabilities, diabetes, liver disease, poor growth, cardiac disease, respiratory complications and seizures.
TMEM126B is a gene that makes a protein indispensable for the assemblage of the complex. In some cases this gene can cause faults that create problems during the production of energy. Complex 1 deficiency is the most common characteristic in people that have mitochondrial disease. The complex deficiency can be isolated or it can be a part of a multiple-respiratory-chain-complex deficiency with the involvement of other parts of the oxidative phosphorylation (OXPHOS). OXPHOS is an enzymatic process that occurs in both prokaryotes and eukaryotes and generate ATP. Defective genes can be the result of mutations occurred in the maternally-inherited mitochondrial genome (mtDNA) or more frequently, in the genes located on the autosomes. The autosomes are 23 pairs of chromosomes which are responsible for the inheritance of traits and genetic