Researchers of UT Sothewestern Medical Center discovered certain compounds which inhibitis a singnaling pathway in the neurodegenerative Huntington’s disease. Huntington’s disease also referred as disorder (HD) is a gentic disease caused by the autosomal dominant mutation of gene (Huntingtin gene) which results is abnormal protein production and inhibition of Huntingtin protein.This protein formed damages certain areas in brain.The compound discovered by the scientist gives the degradative protein production a haly and gradually may help in development of drug therapy against the neurodegenerative disorders.
Dr.Ilya Bezprozvanny (senior author of the study said),the indentification of this noval compound have generated a new therapeutic approach and target in disorder(HD)/Chorea.Based on this study the pathognesis of the disease could be better understood and known. This fatal genetic disorder which has no cure leads to wastage of brain cells and thus leads to various other complications like psychatric issues, dementia, mental disabilities, uncoordinated bodily movements and also death. Symptoms of this disease varies in different individuals.
Many people in U.S. are already facing this fatal disorder and some are at risk. People in the age group between 35-44 have high chances of getting this disorder, younger generation have very less risk (6%) of developing the symptoms. Generally after the onset of the symptoms of the disease life expectancy reduces to 20yrs. This degenerative phase gradually results in aspiration pnuemonia and heart failure.
Signaling Pathway Blocked
Huntingtin protein (Htt) protein when mutated due to the disorder majorly affects the striatum of the brain and with the progress of the disease other areas are also damaged gradually. The signaling pathway (store-operated calcium entry pathway) is the one which is effectively blocked by the compounds discovered.The compounds are quinazoline derived and can act on the pathway which is the therapeutic target site in this disorder.Brain cells when was supplied en vivo whith the quinoline compounds ,this tend to protect the brain cells from getting damaged. UT SouthwesternvResearchers said if this holds proper then soon a drug can be developed which may slow the cell damage and delay the disease adversities.This study by the UT Southwestern researchers was funded by the National Institute of Neurological Disorders and Stroke (NINDS), the Russian Basic Research Foundation and CHDI Foundation.
Disorder (HD) Management and Surveillance
Long term supportive care should be provided to the HD patients.The side effects of the pharmacologiv treatments should also been taken care off.Proper dietary intake,evaluating the severity of the depression,cognitive decline and behaviour changes should also be handled.The routine functional abilities assessment should be done using BOSH (Behaviour Observation Scale ) and UHDRS.