title: Interaction of the SPG21 protein ACP33/maspardin with the aldehyde dehydrogenase ALDH16A1.
abstract: Mast syndrome (SPG21) is an autosomal-recessive complicated form of hereditary spastic paraplegia characterized by dementia, thin corpus callosum, white matter abnormalities, and cerebellar and extrapyramidal signs in addition to spastic paraparesis. A nucleotide insertion resulting in premature truncation of the SPG21 gene product acidic cluster protein 33 (ACP33)/maspardin underlies this disorder, likely causing loss of protein function. However, little is known about the function of maspardin. Here, we report that maspardin localizes prominently to cytoplasm as well as to membranes, possibly at trans-Golgi network/late endosomal compartments. Immunoprecipitation of maspardin with identification of coprecipitating proteins by mass spectrometry revealed the aldehyde dehydrogenase ALDH16A1 as an interacting protein. This interaction was confirmed using overexpressed proteins as well as by fusion protein pull down experiments, and these proteins colocalized in cells. Further studies of the function of ALDH16A1 and the role of the maspardin-ALDH16A1 interaction in neuronal cells may clarify the cellular pathogenesis of Mast syndrome.
authors.affiliation: Department of Biological and Environmental Sciences, Texas A & M University-Commerce, Commerce, TX 75428, USA. michael_hanna@tamu-commerce.edu
authors.forename: Michael C
authors.initials: MC
authors.lastname: Hanna
authors.forename: Craig
authors.initials: C
authors.lastname: Blackstone
mesh_terms: D048868:Adaptor Proteins, Signal Transducing; D000444:Aldehyde Dehydrogenase / Q000235:genetics / Q000378:metabolism*; D000818:Animals; D015415:Biomarkers / Q000378:metabolism; D002352:Carrier Proteins / Q000235:genetics / Q000378:metabolism*; D006367:HeLa Cells; D006801:Humans; D007527:Isoenzymes / Q000235:genetics / Q000378:metabolism; D051379:Mice; D009154:Mutation; D015419:Spastic Paraplegia, Hereditary / Q000201:enzymology / Q000235:genetics; D013577:Syndrome
chemical_list: D048868:Adaptor Proteins, Signal Transducing; D015415:Biomarkers; D002352:Carrier Proteins; D007527:Isoenzymes; C424703:SPG21 protein, human; C543453:ALDH16A1 protein, human; D000444:Aldehyde Dehydrogenase