Developing New Research Nodes about Human Mitochondrial Diseases

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Mitochondrial Diseases

The study of genes and genetic codes has been a key area of advancement for the field of life sciences. Genetic codes are converted into proteins as a necessary process in all living organisms, and an important part of this process is the coupling of the genetic code with amino acid by the transfer RNA (tRNA). Hence, the process of protein synthesis holds the modification of tRNAs as a key step, and a number of researchers have been conducted in this regard. Mitochondrial diseases, commonly known as the power house of the cell, endow an protein synthesis mechanisms that is dedicated towards aerobic energy production. The most common reason behind the occurrence of mitochondrial diseases is the encoding of tRNA genes in the mitochondrial genome. Although all forms of mitochondrial DNA mutations disrupt the energy dynamics across cells, few of these mutations reflect in the form of clinical symptoms.

Basis of Research

The understanding regarding the development of disorders into diseases has extremely low due to the inability to study primary genetic mutations as attackers of tRNAs or their chemical modifications. However, in a eureka moment, a collaboration between researchers at University of Helsinki and the University of Chicago has overcome this default by studying next-generation RNA sequencing. Nature communications journal published the findings of the study that was collaboratively done by the aforementioned universities. \

Findings of Research

It was possible for researchers to study the most common form of mitochondrial tRNA mutations or myoclonic epilepsy with ragged red fibers. Changes in tRNA have been deftly studied as a part of the research that is expected to open new avenues in the field of genetics.

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