{"id":238857,"date":"2026-06-12T23:04:42","date_gmt":"2026-06-13T04:04:42","guid":{"rendered":"https:\/\/lifeboat.com\/blog\/2026\/06\/faulty-protein-cleanup-gene-tied-to-severe-early-onset-neurological-disorders"},"modified":"2026-06-12T23:04:42","modified_gmt":"2026-06-13T04:04:42","slug":"faulty-protein-cleanup-gene-tied-to-severe-early-onset-neurological-disorders","status":"publish","type":"post","link":"https:\/\/lifeboat.com\/blog\/2026\/06\/faulty-protein-cleanup-gene-tied-to-severe-early-onset-neurological-disorders","title":{"rendered":"Faulty protein cleanup gene tied to severe early-onset neurological disorders"},"content":{"rendered":"

<\/a><\/p>\n

Though protein clumps associated with Alzheimer\u2019s and Parkinson\u2019s were discovered more than a century ago, researchers remain largely unable to prevent them from forming or eliminate them from the brain. And though a variety of therapies have taken aim at tau tangles, beta-amyloid plaques and Lewy bodies, among other notorious aggregates, none have been very effective at stopping disease progression.<\/p>\n

Rockefeller\u2019s Hermann Steller and his team in the Strang Laboratory of Apoptosis and Cancer Biology have long been focused on understanding how the cell\u2019s protein-degrading machines, called proteasomes, are regulated. His lab discovered that a transporter protein termed PI31 shuttles proteasomes over long distances from the nerve cell body to synapses. When this system fails, synapses become depleted of degradative capacity, and proteins that should have been eliminated accumulate. As a result, synaptic communication breaks down, protein clumps form and neuronal health deteriorates.<\/p>\n

Now a new study<\/a> in Nature Communications<\/i>, led by researchers from University College London and contributed to by Steller\u2019s lab, has identified mutations in PSMF1, the gene that produces PI31, that cause the protein to malfunction. Moreover, the scientists demonstrated that these mutations cause a spectrum of severe, very early-onset neurological disorders.<\/p>\n","protected":false},"excerpt":{"rendered":"

Though protein clumps associated with Alzheimer\u2019s and Parkinson\u2019s were discovered more than a century ago, researchers remain largely unable to prevent them from forming or eliminate them from the brain. And though a variety of therapies have taken aim at tau tangles, beta-amyloid plaques and Lewy bodies, among other notorious aggregates, none have been very [\u2026]<\/p>\n","protected":false},"author":662,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[11,412,1495,47],"tags":[],"class_list":["post-238857","post","type-post","status-publish","format-standard","hentry","category-biotech-medical","category-genetics","category-health","category-neuroscience"],"_links":{"self":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/238857","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/users\/662"}],"replies":[{"embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/comments?post=238857"}],"version-history":[{"count":0,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/posts\/238857\/revisions"}],"wp:attachment":[{"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/media?parent=238857"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/categories?post=238857"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/lifeboat.com\/blog\/wp-json\/wp\/v2\/tags?post=238857"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}