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.
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Research done in Newcastle University has verified the existence of a mitochondrial disease that causes mutation and affects Complex 1, one of five complexes necessary for the production of energy.
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
diseases.
Diagnosing mitochondrial disease has always been a really hard process and has always required a very long time. Professor Rob Taylor from the Wellcome Trust Centre for Mitochondrial Research, who is also an active participant in the NHS Highly Specialized Mitochondrial Diagnostic Laboratory at the Newcastle Hospitals NHS Foundation Trust says: “The diagnosis of mitochondrial disease is often a complicated and time consuming process. There are over 1,300 potential genes that can lead to disease and, as such, finding the genetic cause is sometimes like looking for a needle in a haystack”. In order to have an accurate diagnosis it would be better to refer to a physician but you can also use a combination of clinical observations, laboratory evaluation, cerebral imaging, and muscle biopsies. Muscle biopsy involves the removal of a small piece of muscle from the upper thigh, however also this method is not 100% accurate. Many hospitals don’t possess a metabolic laboratory in order to diagnose mitochondrial disorders, therefore this process is even harder.
A team of medics and scientists at the Wellcome Trust Centre for Mitochondrial Research at Newcastle University , together with other international collaborators after succeeding in the identification of mutations in the gene also known as TMEM126B that can lead to mitochondria disease, have recently developed a revolutionary genetic test using next generation sequencing. This rapid test will only take 2-3 days, much less then the other previous methods. These extremely specialized services are all funded by NHS funded and spread out through the country.
Unfortunate to this day there isn’t a real cure for mitochondrial disease. Most experts advise to follow different treatments: like using a combination of vitamins and improve the patient’s nutrition. However is not demonstrated that these treatments alter the course of the disease and some doctors actually prefer not to prescribe any medication.
Being able to discover genetic causes for this disease is extremely important, finally families will be able to find out what is wrong with their child. Scientists and doctors will help them understand the present and future risks and will most likely prevent the loss of another child.
This discovery isn’t only scientifically revolutionary but it will bring back hope to many families that have lost it a long time ago.
Research done in Newcastle University has verified the existence of a mitochondrial disease that causes mutation and affects Complex 1, one of five complexes necessary for the production of energy.
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
diseases.
Diagnosing mitochondrial disease has always been a really hard process and has always required a very long time. Professor Rob Taylor from the Wellcome Trust Centre for Mitochondrial Research, who is also an active participant in the NHS Highly Specialized Mitochondrial Diagnostic Laboratory at the Newcastle Hospitals NHS Foundation Trust says: “The diagnosis of mitochondrial disease is often a complicated and time consuming process. There are over 1,300 potential genes that can lead to disease and, as such, finding the genetic cause is sometimes like looking for a needle in a haystack”. In order to have an accurate diagnosis it would be better to refer to a physician but you can also use a combination of clinical observations, laboratory evaluation, cerebral imaging, and muscle biopsies. Muscle biopsy involves the removal of a small piece of muscle from the upper thigh, however also this method is not 100% accurate. Many hospitals don’t possess a metabolic laboratory in order to diagnose mitochondrial disorders, therefore this process is even harder.
A team of medics and scientists at the Wellcome Trust Centre for Mitochondrial Research at Newcastle University , together with other international collaborators after succeeding in the identification of mutations in the gene also known as TMEM126B that can lead to mitochondria disease, have recently developed a revolutionary genetic test using next generation sequencing. This rapid test will only take 2-3 days, much less then the other previous methods. These extremely specialized services are all funded by NHS funded and spread out through the country.
Unfortunate to this day there isn’t a real cure for mitochondrial disease. Most experts advise to follow different treatments: like using a combination of vitamins and improve the patient’s nutrition. However is not demonstrated that these treatments alter the course of the disease and some doctors actually prefer not to prescribe any medication.
Being able to discover genetic causes for this disease is extremely important, finally families will be able to find out what is wrong with their child. Scientists and doctors will help them understand the present and future risks and will most likely prevent the loss of another child.
This discovery isn’t only scientifically revolutionary but it will bring back hope to many families that have lost it a long time ago.