title: Proteomic analysis of lymphoblastoid cells from Nasu-Hakola patients: a step forward in our understanding of this neurodegenerative disorder.
abstract: Nasu-Hakola disease (NHD) is a recessively inherited rare disorder characterized by a combination of neuropsychiatric and bone symptoms which, while being unique to this disease, do not provide a rationale for the unambiguous identification of patients. These individuals, in fact, are likely to go unrecognized either because they are considered to be affected by other kinds of dementia or by fibrous dysplasia of bone. Given that dementia in NHD has much in common with Alzheimer's disease and other neurodegenerative disorders, it cannot be expected to achieve the differential diagnosis of this disease without performing a genetic analysis. Under this scenario, the availability of protein biomarkers would indeed provide a novel context to facilitate interpretation of symptoms and to make the precise identification of this disease possible. The work here reported was designed to generate, for the first time, protein profiles of lymphoblastoid cells from NHD patients. Two-dimensional electrophoresis (2-DE) and nano liquid chromatography-tandem mass spectrometry (nLC-MS/MS) have been applied to all components of an Italian family (seven subjects) and to five healthy subjects included as controls. Comparative analyses revealed differences in the expression profile of 21 proteins involved in glucose metabolism and information pathways as well as in stress responses.
authors.affiliation: Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy; Laboratoire d'excellence-Ion channel science and therapeutics, UMR, CNRS, Nice, France.
authors.forename: Serena
authors.initials: S
authors.lastname: Giuliano
authors.affiliation: Institute for Biochemical Technologies, Proteomics and Metabolomics Unit, National Research Council, Segrate (Milano), Italy.
authors.forename: Anna Maria
authors.initials: AM
authors.lastname: Agresta
authors.affiliation: Institute for Biochemical Technologies, Proteomics and Metabolomics Unit, National Research Council, Segrate (Milano), Italy.
authors.forename: Antonella
authors.initials: A
authors.lastname: De Palma
authors.affiliation: Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.
authors.forename: Simona
authors.initials: S
authors.lastname: Viglio
authors.affiliation: Institute for Biochemical Technologies, Proteomics and Metabolomics Unit, National Research Council, Segrate (Milano), Italy.
authors.forename: Pierluigi
authors.initials: P
authors.lastname: Mauri
authors.affiliation: Department of Biology and Biotechnologies, Biochemistry Unit, University of Pavia, Pavia, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Fumagalli
authors.affiliation: Department of Biology and Biotechnologies, Biochemistry Unit, University of Pavia, Pavia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Iadarola
authors.affiliation: Department of Brain and Behavioral Sciences, University of Pavia, Pavia, Italy.
authors.forename: Lorenza
authors.initials: L
authors.lastname: Montalbetti
authors.affiliation: Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.
authors.forename: Roberta
authors.initials: R
authors.lastname: Salvini
authors.affiliation: Department of Molecular Medicine, Biochemistry Unit, University of Pavia, Pavia, Italy.
authors.forename: Anna
authors.initials: A
authors.lastname: Bardoni
mesh_terms: D000328:Adult; D000368:Aged; D016022:Case-Control Studies; D002853:Chromatography, Liquid; D015180:Electrophoresis, Gel, Two-Dimensional; D005260:Female; D005786:Gene Expression Regulation; D006801:Humans; D007558:Italy; D008060:Lipodystrophy / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D008214:Lymphocytes / Q000378:metabolism*; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D008875:Middle Aged; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D010375:Pedigree; D011506:Proteins / Q000378:metabolism*; D040901:Proteomics / Q000379:methods*; D011971:Receptors, Immunologic / Q000235:genetics*; D013344:Subacute Sclerosing Panencephalitis / Q000235:genetics* / Q000378:metabolism / Q000473:pathology*; D053719:Tandem Mass Spectrometry; D055815:Young Adult
chemical_list: D008562:Membrane Glycoproteins; D011506:Proteins; D011971:Receptors, Immunologic; C498715:TREM2 protein, human