echemi logo
  • Product
  • Supplier
  • Inquiry
    Home > Active Ingredient News > Study of Nervous System > PNAS: Study reveals genetic defects that cause ALS

    PNAS: Study reveals genetic defects that cause ALS

    • Last Update: 2020-06-16
    • Source: Internet
    • Author: User
    Search more information of high quality chemicals, good prices and reliable suppliers, visit
    JUNE 12, 2020 /PRNEWSWIRE/ --- RESEARCHERS AT THE UNIVERSITY OF MARYLAND SCHOOL OF MEDICINE (UMSOM) FOUND HOW CERTAIN GENETIC MUTATIONS CAN LEAD TO AMYOTROPHIC LATERAL SCLEROSIS (ALS), A FINDING THAT COULD PROVIDE A NEW WAY TO TREAT THE DISEASE, THEIR FINDINGS WERE PUBLISHED RECENTLY IN THE JOURNAL PNASALS is a deadly disease that cannot be curedWith the aggravation of the disease, alS patients will gradually lose the ability to exercise, resulting in problems with basic functions such as breathing and swallowingAbout half of ALS patients also develop dementiaPrevious studies have found that the gene UBQLN2 has an effect on the occurrence of ALS, but so far, researchers have not fully understood how the UBQLN2 mutation interferes with the pathway and causes ALS(Photo Source:"Our study shows that mutations in the UBQLN2 gene can lead to the destruction of the way cells remove garbage," said author Dr Mervyn Monteiro, a professor of neurobiology"If the mechanism of protein recycling is disrupted, misfolded proteins build up in nerve cells and become toxic, eventually destroying the cellsThis damage can lead to neurodegenerative diseases, etc"To study how the UBQLN2 mutation causes ALS, DrMonteiro's team used human cells and the UBQLN2 mutation mouse model to study itThe researchers first removed the UBQLN2 gene from human cells and found that it completely blocked the way protein sourcingThey then re-import normal or mutated genes into the cellsThey found that normal UBQLN2 imports restored this pathway, and none of the five gene mutations had a similar effectFurther, DrMonteiro and his colleagues used mouse models to find significantly lower levels of protein ATP6v1g1 in mice with genetic mutations, further leading to the blocking of the protein recovery process"Our new findings are exciting because similar deficiencies have been found in Alzheimer's, Parkinson's and Down's syndrome," Monteiro said This suggests that the repair of defects is of broad significance not only for the treatment of ALS, but also for other neurodegenerative diseases "(Bio Valley Information Source: Researchers identify new project defect to ALS info link: original source: Josephine J Wu et al, ALS/FTD rheens in UBQLN2 autophagy by shwedd y sienn dweud DOI: 10.1073/pnas.1917371117 Original link:
    This article is an English version of an article which is originally in the Chinese language on and is provided for information purposes only. This website makes no representation or warranty of any kind, either expressed or implied, as to the accuracy, completeness ownership or reliability of the article or any translations thereof. If you have any concerns or complaints relating to the article, please send an email, providing a detailed description of the concern or complaint, to A staff member will contact you within 5 working days. Once verified, infringing content will be removed immediately.

    Contact Us

    The source of this page with content of products and services is from Internet, which doesn't represent ECHEMI's opinion. If you have any queries, please write to It will be replied within 5 days.

    Moreover, if you find any instances of plagiarism from the page, please send email to with relevant evidence.