Researchers discover new genes linked to 'frozen disease'

British and Australian researchers report in a new issue of the American journal Science that they have discovered a new gene linked to "frozen disease" that could help researchers better understand the pathogenesis of the deadlymotordegenerative neuronaldisease" The medical name of "frozen" is amyotrophic lateral sclerosis, known simply as ALS, and its main clinical manifestation is muscle atrophy and weakness, in which the patient eventually dies of respiratory failureThe disease is listed by the World Health Organization as one of the top five terminal diseases, and the famous physicist Hawking is a patientthediseaseResearchers from institutions such as King's College London said a variant of THE gene SOD1 associated with the onset of hereditary "frozen" disease was found in 1993, but only about 1% of patients were associated with the diseaseThis time they found a gene called TDPB, which, although rarely mutated, found a close association between its mutation and the pathology of "frozen."In the study, the researchers selected 154 patients with familial "frozen",but no SOD1 variant of the geneResults A similar base variant was found in four patients in one family
,on the TDPB geneAnd
in the neurons that developed lesions in patients with "frozen" disease, researchers found that the TDP-43 protein encoded by the gene variant formed cluster-like build-up To test whether the TDPB gene variant is also related to non-conotic "frozen" , researchers in the United Kingdom and Australia, respectively, selected 2
00 and 17
2 non-family "frozen" patients , to sequence the TDPB gene in their bodies It was found that , at least two humans have other forms of mutation strain in the TDPB gene None of the more than 2
00 healthy controls 1,200 were found to carry the gene variant Christopher Shaw, who lead the study, said it was "extremely rare" to be able to detect multiple variants of the same gene Moreover, these variants seem to have the same effect In the experiment, they bred chickens with mutations in the TDPB gene in the body and found that some neurons and other cells in the chickens died The team plans to next implant the mutated TDPB gene in mice to see if the mutation causes neurons in mammals to die