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Furthermore, de novo missense variants of TOMM70 have been identified to cause neurological impairments in two unrelated patients. Here, we show that mutant zebrafish ruehreip25ca also harbour a missense mutation in tomm70, affecting the same conserved isoleucine residue as in one of the human patients. Using this model, we demonstrate how loss of Tomm70 function leads to impairment. At the molecular level, the mutation affected the interaction of Tomm70 with the endoplasmic reticulum protein Lam6, a known sterol transporter. At the neuronal level, the mutation impaired mitochondrial transport to the axons and dendrites, leading to demyelination of large calibre axons in the spinal cord. These neurodegenerative defects in zebrafish were associated with reduced endurance and swimming efficiency, and alterations in the C-start escape response, which correlated with decreased spiking in giant Mauthner neurons. Thus, in zebrafish, a mutation in the endoplasmic reticulum-mitochondria contact site protein Tomm70 recreates some of the neurodegenerative phenotypes characteristic of hereditary spastic paraplegia.<\/jats:p>","DOI":"10.1242\/dmm.052029","type":"journal-article","created":{"date-parts":[[2025,3,28]],"date-time":"2025-03-28T08:14:28Z","timestamp":1743149668000},"source":"Crossref","is-referenced-by-count":3,"title":["Patient-specific mutation of contact site protein Tomm70 causes neurodegeneration"],"prefix":"10.1242","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0009-0000-4728-5400","authenticated-orcid":false,"given":"Vranda","family":"Garg","sequence":"first","affiliation":[{"name":"Georg-August-University G\u00f6ttingen 1 Department of Cellular Neurobiology , , 37077 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wiebke","family":"M\u00f6bius","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Multidisciplinary Sciences 2 Department of Neurogenetics , , 37075 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ralf","family":"Heinrich","sequence":"additional","affiliation":[{"name":"Georg-August-University G\u00f6ttingen 1 Department of Cellular Neurobiology , , 37077 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Torben","family":"Ruhwedel","sequence":"additional","affiliation":[{"name":"Max Planck Institute for Multidisciplinary Sciences 2 Department of Neurogenetics , , 37075 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roshan Priyarangana","family":"Perera","sequence":"additional","affiliation":[{"name":"Georg-August-University G\u00f6ttingen 3 Department of Developmental Biochemistry , , 37077 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Patricia","family":"Scholz","sequence":"additional","affiliation":[{"name":"Albrecht-von-Haller-Institute for Plant Sciences and Gottingen Center for Molecular Biosciences (GZMB) Georg-August-University G\u00f6ttingen 4 Department of Plant Biochemistry , , 37077 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Till","family":"Ischebeck","sequence":"additional","affiliation":[{"name":"Albrecht-von-Haller-Institute for Plant Sciences and Gottingen Center for Molecular Biosciences (GZMB) Georg-August-University G\u00f6ttingen 4 Department of Plant Biochemistry , , 37077 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gabriela","family":"Salinas","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center, G\u00f6ttingen Georg-August-University G\u00f6ttingen 5 , 37073 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Christian","family":"Dullin","sequence":"additional","affiliation":[{"name":"University Medical Center, G\u00f6ttingen, Georg-August-University G\u00f6ttingen 6 Department of Diagnostic and Interventional Radiology , , 37075 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin C.","family":"G\u00f6pfert","sequence":"additional","affiliation":[{"name":"Georg-August-University G\u00f6ttingen 1 Department of Cellular Neurobiology , , 37077 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jacob","family":"Engelmann","sequence":"additional","affiliation":[{"name":"Bielefeld University 7 Faculty of Biology , 33615 Bielefeld ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roland","family":"Dosch","sequence":"additional","affiliation":[{"name":"Institute of Human Genetics, University Medical Center, G\u00f6ttingen Georg-August-University G\u00f6ttingen 5 , 37073 G\u00f6ttingen ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1816-3241","authenticated-orcid":false,"given":"Bart R. 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