Scientists identify genes responsible for protection against neurodegenerative diseases

It is difficult to recover completely from certain disorders pertaining to mind and nervous system. In the pursuit to understand the causes of such diseases and to find their effective treatment, a recent study claimed to have identified the root cause of neurodegenerative diseases. The study, titled “UBQLN2 Mediates Autophagy-Independent Protein Aggregate Clearance by the Proteasome,” is based on the premise that removal of misfolded and aggregated proteins is necessary for survival of cells.

The authors of the study, published online in the journal Cell in July 2016, have indicated how cells secure themselves against “protein clumps” identified as the cause behind certain cognitive disabilities, like Alzheimer’s, Parkinson’s and Huntington’s diseases.

Genes UBQLN2 help remove toxic protein clumps from brain

The researchers explained the role of a gene called UBQLN2 in removing the toxic protein clumps from the brain that protects the body from diseases. The researchers found this by making use of advanced mouse models and tools of biochemistry and cell biology.

The authors explained that UBQLN2 aids the cell in getting rid of the dangerous protein clumps by first detangling them and then by shredding them to prevent further tangles. The occurrence of protein clumps is a part of the natural aging process that are normally removed and ejected as a result of the gene UBQLN2.

Neurodegenerative diseases are usually caused by gene mutation or faulty functioning of the gene which renders it incapable to help the cell in disposing the hazardous protein clumps. Stressing on the same, Dr. Thimo Kurz from the Institute of Molecular, Cell and Systems Biology said, “The function of UBQNL2 is connected to many neurodegenerative disorders, such as Parkinson’s, Alzheimer’s and Huntington’s disease. These patients often have very clear clumps in their brain cells. Using mice that mimic human Huntington’s disease, we found that when UBQLN2 is mutated, it could no longer help nerve cells to remove protein clumps in the brains of these mice.”

Previous related researches had indicated the impact of the UBQLN2 gene turning faulty and resulting in psychiatric disorders identified as Amyotrophic Lateral Sclerosis with Frontotemporal Dementia (ALS/FTD or motor-neuron disease with dementia).

Studies to understand role of genes in mental illnesses

Though the latest study could not shed light on the reasons that lead gene mutation to cause nervous disorders, it would go a long way in finding new treatment options for patients affected by this problem. Various studies are being conducted to understand the working of UBQLN2 and how its mutation results in adverse health effects.

Emphasizing on the importance of the observations made, co-author of the study Dr. Roland Hjerpe said, “The significance of this discovery goes beyond the role of UBQLN2 in motor-neuron disease with dementia. Our study has revealed a new mechanism by which nerve cells cope with protein clumps in general, which has implications for most neurodegenerative diseases and can open up avenues for new therapeutic interventions to treat these conditions in the future.”

Available treatment options

Most of the degenerative nerve diseases affect vital body actions, like balance, movement, talking, respiratory and cardiovascular functions. Some are attributed to genetic disorders, while others are caused due to effect of toxins, viruses or chemicals that may have accumulated in the body. If left untreated, neurodegenerative diseases can be life-threatening. While most of them cannot be completely cured, timely treatment can help provide necessary relief from its symptoms, freedom from pain while enhancing the flexibility or mobility.

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