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Written By: Editorial Team | Updated : May 4, 2014 4:01 PM IST
Researchers at Vanderbilt University Medical Center have discovered a potential genetic variant in the asymptomatic individuals that may make brains more resilient against Alzheimer's.
'Most Alzheimer's research is searching for genes that predict the disease, but we're taking a different approach. We're looking for genes that predict who among those with Alzheimer's pathology will actually show clinical symptoms of the disease,' principal investigator Timothy Hohman, Ph.D., a post-doctoral research fellow in the Center for Human Genetics Research and the Vanderbilt Memory and Alzheimer's Center said. The researchers used a marker of Alzheimer's disease found in cerebrospinal fluid called phosphorylated tau. In brain cells, tau is a protein that stabilizes the highways of cellular transport in neurons. In Alzheimer's disease tau forms 'tangles' that disrupt cellular messages.
Analyzing a sample of 700 subjects from the Alzheimer's Disease Neuroimaging Initiative, Hohman and colleagues looked for genetic variants that modify the relationship between phosphorylated tau and lateral ventricle dilation a measure of disease progression visible with magnetic resonance imaging (MRI). One genetic mutation (rs4728029) was found to relate to both ventricle dilation and cognition and is a marker of neuroinflammation. 'This gene marker appears to be related to an inflammatory response in the presence of phosphorylated tau,' Hohman said.
'It appears that certain individuals with a genetic predisposition toward a 'bad' neuroinflammatory response have neurodegeneration. But those with a genetic predisposition toward no inflammatory response, or a reduced one, are able to endure the pathology without marked neurodegeneration,' he added. The article, 'Genetic modification of the relationship between phosphorylated tau and neurodegeneration,' is published online in the journal Alzheimer's and Dementia.
What is Alzheimer's?
Alzheimer's disease is a degenerative mental disease that causes problems with memory, thinking and behaviour. It is the most common form of dementia and is commonly seen in the elderly. While the chances of developing the disease increase with age, it is now seen that younger people are also now being diagnosed with the disease.
During the course of Alzheimer's disease, nerve cells in areas of the brain that control language, reasoning, sensory processing, and conscious thought die due to plaque deposition. Symptoms include confusion, mood swings, impaired reasoning or judgement, long-term memory loss and a gradual loss of bodily functions.Dementia is the most prominently visible symptom. People with Alzheimer's begin to have problems recognising family and friends. They also find it exceptionally difficult to learn new things, carry out tasks that involve multiple steps (like getting dressed) and cope with new situations. They might suffer from insomnia. In the more severe stages of Alzheimer's disease, the brain completely shrinks and they become increasinglydependent on others.
The diagnosis of Alzheimer's is usually based on collective symptoms and family history. Other tests that can be performed are mental status tests and radiological tests. A recent advancement in the diagnosis of the disease is the use of biomarkers. Current treatments for Alzheimer's are based on treating the symptoms but they do not eliminate the cause. The best way to slow the process and prevent it from progressing is early medical intervention. The earlier the condition is identified, the better the prognosis. Treatments include medications for memory loss and treatments for behavioural and sleep changes. Intervention therapies like reminiscence therapy, simulated presence therapy and validation theory may improve the quality of a patient's life.
With inputs from ANI
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