CRISPR for curing Muscular Dystrophy

Human body is composed of a complex mixture of muscles responsible for a series of functions to ensure smooth running of body. Muscles are responsible for the movement of bones and skeletal structures, enable organ movements and functioning i.e; movements of digestive tract and pumping function of heart and enables many sorts of hormonal regulations inside the body. Error in the muscular system can lead to a series of degrading effects causing not only damage to the organ systems, but also resulting in to dysfunctional skeletal system rendering a person incapable of movements. Many genetic disorders results into such collapse of muscular functioning over the ages, one of such disease is the myotonic-muscular dystrophy.

 

THE CAUSE:

The disease is genetic in nature and can be easily transmitted from one generation to the next, in addition to this the disease is autosomal-dominant type and there are two types of muscular myotonic disorders caused by mutations in two separate genes; the Type-I and Type-II with type-I being ore fatal. The type-I is caused by mutations in a gene named “DMPK” which encode for a specific protein kinases involved in impulse transfer and communications in between cells. The mutation in the gene produces an unstable region inside it producing longer than normal RNA’s in cell, these RNA’s began to trap certain essential protein molecules in cells disrupting normal functional biochemical chain and resultant protein also becomes toxic in nature. This causes a breakup in communication and functioning system of cells and muscles remain contracted for long time resulting in muscle deterioration. Onset of the disease is during the middle ages of a person and in severe cases causes a reduced muscle mass in lower legs, shoulders, neck and face, also it results in clouding of retinal muscle and errors in cardiac conductions. Often people develop respiratory disorders as well due to poor muscular functioning as result of this condition.

Patient with Myotonic-Dystrophy

 THE CURE:

So far there is no effective way to prevent this disease and no proper medication to reduce the chances of disease onset, only treatment so far involves a balance diet and regular physiotherapy of patient. A possible cure for diseases like this was a fantasy for a long time until now.

A group of researchers lead by Dr. Gene Yeo at the UC San Diego, California has conducted two different studies in an effort to cure such disease; the first study was conducted in 2016-17, in this study the team took normal CRISPR/CAS9 molecule and complex reverse engineering prototype molecule was created designed to cleave target RNA instead of traditional CAS9 molecule whose cleave target is DNA. Then the prototype molecule was tested on a cell culture isolated from muscular dystrophy patient and the degrading acclivity of newly formed RCas9 molecule was measured. Initial results were highly convincing as the new molecule neutralized up to 95% of the toxic RNA molecules in cell. In second study published in 2020 the novel RCas9 molecule was tested for its efficiency in mouse model of myotonic dystrophy disease. The result showed that a dose of RCas9 molecule massively reduced the accumulation of these toxic RNA molecules inside mouse body cells thus reversing their deleterious effects and resulting in to gradual increase in body muscle mass and stable functioning of the body. On successful trial for this technique Dr. Yeo said:

“There are no cures for such muscular diseases, this study opens up a new gate towards the treatment and cure of this and at least 20 other such hereditary muscular diseases like the ALS.”

Dr. Gene Yeo

Conclusion:

Such new study are consistently opening new doorways towards the possibility of multi-dimensional usage of a technology which remained with humans for century and was left unnoticed until a decade ago and it tells how much can mankind gain from the immense revolutionary potential of this technology.