Blas Frangione

Blas Frangione, MD, PhD

Research Professor, Department of Pathology

Professor Emeritus of Pathology and Psychiatry, Department of Pathology

Research Professor, Department of Psychiatry

Keywords
molecular basis of Alzheimer disease
Summary

Alzheimer disease (AD), a neurodegenerative disorder, manifests late in life with progressive mental deterioration. The biochemical events leading to the brain degeneration involve the deposition of an abnormal fibrillar protein, designated amyloid b protein or Ab, into the brain parenchyma and cerebral vessel walls. While heterogeneous etiologies and clinical manifestations were observed in different cases, a genetic component has been suggested in certain families worldwide. We found that hereditary cerebral hemorrhage with amyloidosis in patients of Dutch origin (HCHWA-D) also involves deposition of the Alzheimer amyloid. It is an autosomal dominant form of amyloid angiopathy, characterized by massive accumulation of Ab in cerebral vessel walls, leading to recurrent strokes and early death. We discovered the first Ab gene mutation in these patients. Subsequently, additional mutations have been found in patients with early age of onset forms of familial AD (FAD). Our three current research projects are: 1) searching for Ab gene mutations in different FADs and studying their relationship to different clinicopathological presentations; 2) exploring the genetic and biochemical relationship between apolipoprotein E and AD; and 3) studying the mechanism by which Ab gene mutations accelerate amyloid deposition by a) isolating the precursor protein as well as its degradation products from different tissues and transfected tissue culture cell lines and b) developing an animal model for the disease, possibly transgenic mice that carry the mutated Ab gene on which new therapeutic approaches might be tested.

 

These focus areas and their associated publications are derived from medical subject headings from PubMed.
represents one publication
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Research Professor, Department of Pathology

Professor Emeritus of Pathology and Psychiatry, Department of Pathology

Research Professor, Department of Psychiatry

MD from University of Buenos Aires

PhD from Cambridge University

Tarasoff-Conway, Jenna M; Carare, Roxana O; Osorio, Ricardo S; Glodzik, Lidia; Butler, Tracy; Fieremans, Els; Axel, Leon; Rusinek, Henry; Nicholson, Charles; Zlokovic, Berislav V; Frangione, Blas; Blennow, Kaj; Menard, Joel; Zetterberg, Henrik; Wisniewski, Thomas; de Leon, Mony J

Nature reviews. Neurology. 2016 Apr; 12(4):248-248

Tarasoff-Conway, Jenna M; Carare, Roxana O; Osorio, Ricardo S; Glodzik, Lidia; Butler, Tracy; Fieremans, Els; Axel, Leon; Rusinek, Henry; Nicholson, Charles; Zlokovic, Berislav V; Frangione, Blas; Blennow, Kaj; Menard, Joel; Zetterberg, Henrik; Wisniewski, Thomas; de Leon, Mony J

Nature reviews. Neurology. 2015 Aug; 11(8):457-470

Increased CSF Matrix Metalloproteinase-9 (MMP-9) and Reduced White Matter Integrity with Increasing Age in Late-life Major Depression [Meeting Abstract]

Pomara, Nunzio; Reichert, Chelsea; Lee, Sang Han; Nierenberg, Jay; Halliday, Matthew R; Sagare, Abhay P; Frangione, Blas; Zlokovic, Berislav V

Neuropsychopharmacology. 2014 Dec; 39:S324-S325

Halliday, Matthew R; Pomara, Nunzio; Sagare, Abhay P; Mack, Wendy J; Frangione, Blas; Zlokovic, Berislav V

JAMA neurology. 2013 Sep 01; 70(9):1198-1200

Osorio, Ricardo S; Pirraglia, Elizabeth; Aguera-Ortiz, Luis F; During, Emmanuel H; Sacks, Hayley; Ayappa, Indu; Walsleben, Joyce; Mooney, Anne; Hussain, Asad; Glodzik, Lidia; Frangione, Blas; Martinez-Martin, Pablo; de Leon, Mony J

Journal of the American Geriatrics Society. 2011 Mar; 59(3):559-562

Revesz, T; Rostagno, A; Plant, G; Lashley, T; Frangione, B; Ghiso, J; Holton, JL

Neurodegeneration: The Molecular Pathology of Dementia and Movement Disorders. 2nd ed.. p.439-445. (841302)

Tomidokoro Y; Tamaoka A; Holton JL; Lashley T; Frangione B; Revesz T; Rostagno A; Ghiso J

Hirosaki igaku = Hirosaki medical journal. 2010 Jul 8; 61(Suppl):S262-S269

Ghiso J; Tomidokoro Y; Revesz T; Frangione B; Rostagno A

Hirosaki igaku = Hirosaki medical journal. 2010 Jul 8; 61(Suppl):S111-S124