The Impact of Mitochondrial Dysfunction
The mitochondria, which are the specialized compartments found in body cells other than red blood cells, are what cause mitochondrial illness when they fail to function as intended. More than 90% of the body's energy required to support organ function and life sustainability is produced by the mitochondria. There is typically little energy production within the cell when they fail. In most cases, the cell will suffer damage and may even die. If the process is repeated throughout the body, the organ system as a whole may begin to fail (UMDF, 2016).
Symptoms and Treatment
The mitochondrial DNA mutations leave the cells with no enough energy for proper functioning and development which results in continuous, severe developmental, cognitive, and physical disabilities. The symptoms usually range from retarded growth, weakness of the muscles, blindness, and organ difficulty among others. So far the mitochondrial disease has no cure, but some treatments can relieve the symptoms and even slow the development of the disorder. It usually takes around 3000 genes for the formation of the mitochondrion, and there is the encoding of only 37 of the genes by the mitochondrial DNA. The rest of the genes are then set in the cell nucleus, and the resultant proteins are conveyed to the mitochondria (UMDF, 2016).
Molecular Study of Mitochondrial Disorders
The analytical algorithms and procedures are always present for the molecular study of patients with the alleged mtDNA disorder. Some mutations are only found in the clinically affected tissues demanding the workup on the muscle DNA models. The availability of the multiple mtDNA deletions is an indication of the screening of the relevant nuclear mtDNA maintenance genes such as the POLG and PEO1 among others. The pathogenic mtDNA mutations regularly lead to the general defect in the mitochondrial respiration resulting in decreased ability in the production of the cellular ATP.
Understanding Clinical Phenotypes and Genotypes
The clinical phenotypes of the mitochondrial diseases are always very diverse. For the effective designing and developing of the healing approaches for the mitochondrial disorders, it is always vital to uncover the molecular and biochemical mechanisms that link the genotype to the phenotype. The mitochondrial disorders are complex in the adults as the detectable alterations in the mtDNA take place as people age, and on the contrary, the aging process may result from the deteriorating mitochondrial function.
References
UMDF. (2016). What is Mitochondrial Disease? – UMDF. Retrieved from https://www.umdf.org/what-is-mitochondrial-disease/
