AI Article Synopsis
- Evidence suggests that certain unexplained human diseases may be linked to a lack of DNA repair enzymes.
- Research on motoneurons in ALS patients and wobbler mice shows significant RNA metabolism issues.
- The authors propose that ALS is caused by a buildup of abnormal DNA in motoneurons due to a deficiency in a specific DNA repair enzyme.
Article Abstract
Evidence is accumulating that a number of previously unexplained human diseases amy arise from a deficiency of DNA repair enzymes. Studies on the motoneurons of patients with amyotrophic lateral sclerosis (ALS), and those of an animal model of motoneuronal degeneration, the wobbler mouse, indicate the presence of major abnormalities of RNA metabolism. We advance the hypothesis that the primary abnormality in ALS is the accumulation of abnormal DNA, which is unable to undertake normal transcription, in motoneurons. This abnormal DNA may arise from a deficiency of an isozyme of one of the DNA repair enzymes.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1001/archneur.1982.00510230003001 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Health Care Delivery and Financial Considerations in Amyotrophic Lateral Sclerosis Clinics: A Survey of Clinic Directors.
Neurology
February 2025
From the Temple University College of Public Health (I.L.H.); Thomas Jefferson University (G.G.); and Department of Neurology (T.D.H.-P.), Lewis Katz School of Medicine at Temple University, Philadelphia, PA.
Background And Objectives: Clinical care for people living with amyotrophic lateral sclerosis (PLWALS) is directed at slowing disease progression and symptom management. The American Academy of Neurology recommends a multidisciplinary approach to providing ALS health care because observational studies show that multidisciplinary clinics (MDCs) extend survival and improve quality of life. However, providing multidisciplinary care is a challenging financial proposition.
View Article and Find Full Text PDFThe Amyotrophic Lateral Sclerosis Multidisciplinary Clinic: Broke but Not Broken.
Neurology
February 2025
From the Department of Neurology (C.N.F.), Emory University, Atlanta, GA; and Department of Neurology (C.C.Q.), University of Pennsylvania, Philadelphia.
Clinical perspective on pluripotent stem cells derived cell therapies for the treatment of neurodegenerative diseases.
Adv Drug Deliv Rev
January 2025
Neurodegenerative Diseases Department, Kadimastem Ltd, Pinchas Sapir 7, Weizmann Science Park, Ness-Ziona, Israel; Department of Molecular Genetics, Weizmann Institute of Science, 76100, Rehovot, Israel.
Self-renewal capacity and potential to differentiate into almost any cell type of the human body makes pluripotent stem cells a valuable starting material for manufacturing of clinical grade cell therapies. Neurodegenerative diseases are characterized by gradual loss of structure or function of neurons, often leading to neuronal death. This results in gradual decline of cognitive, motor, and physiological functions due to the degeneration of the central nervous systems.
View Article and Find Full Text PDFKDiffered brain spontaneous neural activity between limb-onset and bulbar-onset amyotrophic lateral sclerosis patients.
Brain Res Bull
January 2025
Department of Geriatrics, The First Affiliated Hospital of Nanjing Medical University, Nanjing, China. Electronic address:
Purpose: To investigate the differences in brain spontaneous neural activity between limb-onset and bulbar-onset amyotrophic lateral sclerosis (ALS-L and ALS-B, respectively) patients using resting-state functional MRI (rs-fMRI) with amplitude of low-frequency fluctuation (ALFF) and regional homogeneity (ReHo).
Materials And Methods: The rs-fMRI data were collected from 41 ALS patients (11 ALS-B and 30 ALS-L) and 25 healthy controls (HC). ALFF and ReHo values were calculated, and group differences were assessed using one-way ANCOVA and two-sample t-tests.
Associations of dietary factors with amyotrophic lateral sclerosis: A Mendelian randomization study.
Clin Nutr ESPEN
January 2025
Department of Neurology, Taiyuan Central Hospital, Taiyuan, Shanxi Province, China. Electronic address:
Background: An inconsistent yet notable relationship between dietary habits and the risk of amyotrophic lateral sclerosis (ALS) has been previously established, with the causative nature of this relationship remaining uncertain. This study aims to explore the causal connections at a genetic level.
Methods: A two-sample Mendelian Randomization (MR) based analysis was conducted utilizing a comprehensive, publicly assessable Genome-wide association study (GWAS) database.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!