Neurodegenerative diseases have been a major area of interest in Neuroscience. They attack the neurons or nerve cells in the brain and the peripheral nervous system, due to which neuronal functioning degrades over time ultimately resulting in their death. Although treatments, usually experimental drugs, may help alleviate physical or mental symptoms, slowing down the progression of such diseases is not currently established and the cures at present don't exist. Research and investigation into the nature, mode of action, and degeneration of these diseases is imperative in efforts to find a cure. Thus, it is a matter of great fascination that on February 9th, 2024, the National Institute of Mental Health and Neuroscience (NIMHANS) announced that it received its first brain of a Huntington's Disease (HD) patient.
HD is an inherited neurodegenerative disease that causes the progressive breakdown of neurons causing a wide impact on the person’s functional abilities. This results in the degradation of their locomotory, and cognitive functioning resulting in psychiatric disorders. HD is a genetic autosomal dominant disorder caused due to a faulty or nontypical gene. This means that a person only needs to inherit one copy of a nontypical gene to develop this disorder. Suppose if a parent has a faulty HD-linked gene there is a 50% chance that it may be inherited by the offspring.
It gradually worsens over time and is usually fatal. Thus not only affecting the quality of life but also the lifespan of the offspring. According to the National Health Service (NHS), symptoms may include depression, memory lapses, involuntary movements, personality changes, and difficulty in movement.
Up till now, NIMHANS employed the use of substances like blood samples to mimic what happens to a HD affected brain to understand the disease. This was because there was no willingness for brain donation for postmortem research purposes in the past. Another setback was the lack of autopsy centers performing the task of removing the brain from the body and their willingness to do it 24x7.
Presently we have seen evidence of a growing willingness for brain donation and the reception of the first HD-affected brain will surely help make great strides in active Huntington's disease research, in hopes of one day finding a cure.
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