Scientists discover gene associated with nerve disease

20 febbraio 2015

1 min di lettura

(AGI) Milan, Feb 20 - A gene that may cause more than onepercent of cases of the neurological disease AmyotrophicLateral Sclerosis (ALS) has been discovered by an internationalteam. There is no effective treatment for the disease. The teamincluded two Italian researchers, Vincenzo Silani and NicolaTicozzi of the Centro Dino Ferrari, Institute of ClinicalNeurology, IRCCS Ospedale Maggiore Policlinico, University ofMilan, reported the journal Science. The researchers performedwhole exome gene sequencing of 2,874 ALS patients and comparedthem to 6,405 controls. The non-canonical IKB kinase familyTANK-Binding Kinase 1 (TBK1) was identified as an ALS gene. Theexact role of the protein was not fully understood, said DrSilani, but TBK1 was known to be involved in autophagy, themechanisms motoneurones use to get rid of damaged cells. It isbelieved that altering these can determine a steadyaccumulation of anomalous proteins inside the cells, whichkills them off. The discovery of mutations in TBK1 suggeststhat alterations to the processes of autophagy and proteindamage are implicated in ALS, said the report. He added, itwould be extremely interesting to study this new pathogenicmechanism with a view to developing effective neuroprotectivetreatments. (AGI) . .