Scientists from two independent research teams have discovered how the mislocalization of a protein, known as TDP-43, alters the genetic instructions for UNC13A, providing a possible therapeutic target that could also have implications in treating amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and other forms of dementia. ALS and FTD are two neurodegenerative disorders in which many cases are linked by mislocalization of TDP-43, where instead of being primarily located in the nucleus of the cell where genes are activated, it forms aggregates outside the nucleus in multiple neurodegenerative diseases. Rare mutations in the TDP-43 gene are known to cause ALS, but almost all cases of ALS show mislocalization of TDP-43. The studies were published in Nature.
Serum asymmetric dimethylarginine (ADMA) level is an independent biomarker of disease progression and prognosis in amyotrophic lateral sclerosis (ALS), according to a study published in the European Journal of Neurology.
Married just before the pandemic began and just weeks into lockdown in March 2020, Alexa Witte noticed that her husband Billy was having muscle spasms.
It wasn’t a total surprise because Billy, a personal trainer, started a new routine outside the gym — working out and working virtually at home with his clients.
Scientists report that they have uncovered a series of epigenetic modifications in patients with amyotrophic lateral sclerosis (ALS) that could have therapeutic implications. The massive research team involving 76 investigators from 16 countries published its study “Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS” in Science Translational Medicine.
If you shrunk down for a “Magic School Bus”-style journey into an ALS patient’s neurons, you’d see the same thing nearly every time — a key protein knotted into clumps and missing from its usual post in the cell’s nucleus.
In a new meta-analysis of available ALS literature, researchers explore environmental influences potentially linked ALS disease, using rigorous quantitative methods. The study also examines the distribution of ALS over space and time, correlating geographic data with exposure risks and lifestyle or occupational hazards.