Researchers at St. Jude Children’s Research Hospital have discovered that the enzymes ULK2 and ULK1 have a major role in fragmenting down cell structures dubbed as stress granules. These stress granules’ persistence results in toxic upsurge of proteins that destroy brain and muscle cells. Such upsurge is key to the pathology of 3 associated disorders: ALS (amyotrophic lateral sclerosis), IBM (inclusion body myopathy), and FTD (frontotemporal dementia).
Also dubbed as Lou Gehrig’s disease, ALS causes paralysis owing to the casualty of nerve cells monitoring voluntary muscles. IBM leads to weakness in leg and arm muscles. FTD is a type of dementia that injures regions of the brain related with behavior, personality, and language.
Spearheaded by an associate staff of Department of Pathology at St. Jude, Mondira Kundu (researcher at St. Jude), the team posted their results in the Molecular Cell journal. Stress granules are organic “storm shelters” that protect genetic proteins and molecules for the time being when the health of the cell is in danger from chemicals, heat, or infection. Such granules usually disassemble when the pressure is eliminated.
Speaking of disorders, scientists at St. Jude Children’s Research Hospital have solved the secrecy around the most usual genetic cause of Lou Gehrig’s disease, or ALS. The study recommends possible new methods for treatment and diagnosis of the lethal disease. The results are posted in the Molecular Cell journal.
Almost 35% of ALS cases are related with the mutations of gene C9orf72, making it the most ordinary genetic factor for ALS and similar neurological disorder, FTD (frontotemporal dementia). The mutation results in a dramatic elevation in the number of short recurring DNA series and leads to the making of abnormal recurring proteins of different lengths. These proteins are dubbed as DPRs (dipeptide repeat polypeptides). Two of the created DPRs are specifically toxic to neurons and have amino acid arginine.