The United States found the basic pathology of frozen human disease

U.S. researchers said in a paper published in the journal
on The 16th that they have discovered the basic pathology of amyotrophic lateral sclerosis (ALS): a protein mutation called TIA1 that affects the protein's phase change behavior, causing the death of neurons that control muscles, which in turn leads to ALS. The findings could open up new avenues for developing effective treatments for ALS, the researchers said.
ALS commonly known as "frozen human disease", is a motor neurone disease, the disease will appear muscle weakness, contraction, muscle tremor and atrophy and other symptoms. British scientist Stephen Hawking is an ALS patient. At present, the disease is not curable, most patients will die within 3 to 5 years after the disease, and some ALS patients will develop frontal lobe dementia (FTD), personality changes, behavioral abnormalities and other symptoms.
this time, a team of researchers at St. Jude Children's Research Hospital and the Mayo Clinic discovered the disease-caused mutation while analyzing the genomes of a family affected by ALS/FTD. Their study found that this mutation causes abnormalities in the TIA1 protein associated with the cell phase separation process. Further studies have shown that TIA1 mutations occur frequently in ALS patients, and that people who carry the mutated gene also develop ALS.Paul Taylor of St. Jude Children's Research Hospital, author of the
paper, points out that this is the first time scientists have found such als disease-causing mutations that alter the phase change behavior of proteins and, in turn, the biological properties of cells, and the discovery points the way for scientists to develop the first effective alS therapy in the future: by restoring the balance of cell separation in patients, or by preventing nerve damage.
taylor noted that the same phase-change pathology may also be applicable to other neurodegenerative diseases, including Alzheimer's, and that they are seeking to use the same method to study Alzheimer's disease. (Source: Science and Technology Daily Liu Haiying)