Studies have found that IRB2BPL mutations can cause disorders of nervous system function

Copyright © iCell Bioscience Inc, Shanghai 2018-2019

Recently, researchers from Baylor College of Medicine found that mutations in IRF2BPL are accompanied by a neurological disorder. Researchers believe that this loss of protein function due to mutations is the cause of neurological dysfunction.

Previously, a group of patients with symptoms of neurological disorders of unknown etiology, DNA sequencing of these patients and their family members showed that IRF2BPL may be one of the causes of the disease.

In this study, the investigators found that patients with unknown symptoms of severe neurological disorders had nonsense mutations in IRF2BPL that caused the protein to be completely encoded and completely lost. The other two patients had milder symptoms and the analysis showed that they had missense mutations.

In this case, a nucleic acid in the patient's gene is mutated, which in turn affects the composition of an amino acid. In addition, it was found that this mutation effect is dominant, and mutation of one of the two copies leads to disease.

To further investigate the function of IRF2BPL, the researchers began research on fruit flies. The results indicate that the gene is widely expressed in the brain of Drosophila, and complete loss results in a lethal effect in Drosophila. Part of the loss can lead to neurodegenerative diseases.

In summary, the findings of the study revealed that the IRB2BPL mutation causes a disorder of the nervous system, which in turn leads to a series of diseases. Next, we plan to find ways to improve the symptoms.