A new research has found out that a mutation in a gene that regulates neuronal development through control of protein movement within the nerve cells has some associate connection with a debilitating neurological disorder or even a possible spectrum of neurological disorders that can overwhelm the victim through its onset.
According to The Medical News, the scientists have discovered that that mutations in gene DENND5A causes a nervous disorder called epileptic encephalopathy. This is rare and severe form of epilepsy prevalent in children from birth as it causes mental and physical disabilities.
This disorder is a consequence of improper development of brain. Brain function weakening and , calcification of the brain and altered facial structure are the evident consequences of epileptic encephalopathy.
This rare destructive form of epilepsy caused altered brain structure leading to disabilities.
Whole exome sequencing was performed on two families by the physicians .The idea was to express the rare recessive mutations that are not harmful to parents, in the children genetic makeup.
This exome sequencing proved that it was in fact the changes in the gene DENND5A that leads to DENND5A protein deficiency which alters the central nervous system structure and affects the functioning hence causing the disabilities.
About 3 % percent of the world population is epileptic and among them the children affected by this rare form of epilepsy are hard to find. The root cause of this disease has been identified as the gene DENND5A gene. This study is of utmost significance as it exposes the significant yet ignored issues like neurological trafficking. It also tries to explain the new pathophysiological paths that have not been uncovered yet. People should stay aware of these recessive genetic mutations and keep themselves tested and up to date. This will ensure that they are on track and figure out when is it when further testing, consultancy and treatment is required, because mental health is one of the most important aspects of human functioning in everyday life.
