Washington (ISJ) - In a major breakthrough, scientists have discovered an enzyme which causes human genetic disorders. This new finding may help in treatment of brain inflammation, including multiple sclerosis, Alzheimer?s, Parkinson?s and�damages caused after stroke and head injuries. So far, standard anti-inflammatory drugs have not been found very effective in responding to such inflammation.
According to scientists at The Scripps Research Institute (TSRI), this enzyme causes inflammatory molecules in the brain. The high levels of these molecules cause a rare inherited neurodegenerative disorder. This disorder can be cured if researchers can develop a drug which can prevent the spread of this enzyme.
Hereditary mutations are inherited from a parent and are present throughout a person?s life in virtually every cell in the body. These mutations are also called germline mutations because they are present in the parent?s egg or sperm cells, which are also called germ cells. When an egg and a sperm cell unite, the resulting fertilized egg cell receives DNA from both parents. If this DNA has a mutation, the child that grows from the fertilized egg will have the mutation in each of his or her cells.
?This finding is a good example of what can be gained from studying enzymes linked to rare human genetic disorders,? said Benjamin F. Cravatt, chair of TSRI?s Department of Chemical Physiology and member of TSRI?s Skaggs Institute for Chemical Biology.
Cravatt?s team stumbled upon the new enzyme when they were investigating PHARC, a rare and mysterious inherited disorder. Named for its unique set of typical symptoms (polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract), PHARC usually manifests in early adolescence and progressively worsens with age.
The next major challenge before TSRI is to find out a substance which can inactivate this enzyme. The success will lead to developing a drug to inactivate this enzyme which means cure for brain disorders.
Many brain disorders are chronic and incurable conditions whose disabling effects may continue for years or even decades.
Brain disorders have emerged as leading contributors to global disease burden. According to the most recent (2004)�WHO survey, it is estimated that 35% of all disease burden is attributable to brain disorders in Europe only.�