Losing protein in the brain: the case of progranulin

Brain Research
R GhidoniLuisa Benussi

Abstract

It is well known that progranulin protein is involved in wound repair, inflammation, and tumor formation. The wedding between progranulin and brain was celebrated in 2006 with the involvement of progranulin gene (GRN) in Frontotemporal lobar degeneration (FTLD), the most common form of early-onset dementia: up to date, 75 mutations have been detected in FTLD patients as well as in patients with widely variable clinical phenotypes. All pathogenic GRN mutations identified thus far cause the disease through a uniform mechanism, i.e. loss of functional progranulin or haploinsufficiency. Studies on GRN knockout mice suggest that progranulin-related neurodegenerative diseases may result from lifetime depletion of neurotrophic support together with cumulative damage in association with dysregulated inflammation, thus highlighting possible new molecular targets for GRN-related FTLD treatment. Recently, the dosage of plasma progranulin has been proposed as a useful tool for a quick and inexpensive large-scale screening of affected and unaffected carriers of GRN mutations. Before it is systematically translated into clinical practice and, more importantly, included into diagnostic criteria for dementias, further standardization of plasma...Continue Reading

References

Mar 1, 1992·Proceedings of the National Academy of Sciences of the United States of America·V BhandariA Bateman
Jul 25, 1997·American Journal of Medical Genetics·S FroelichL Lannfelt
Jun 18, 1998·Annals of Neurology·P PoorkajG D Schellenberg
Jun 24, 1998·Proceedings of the National Academy of Sciences of the United States of America·M G SpillantiniB Ghetti
Oct 15, 1998·The Journal of Endocrinology·A Bateman, H P Bennett
Sep 26, 2001·Brain : a Journal of Neurology·S M RossoJ C van Swieten
Jun 12, 2002·Neurology·E RatnavalliJ R Hodges
Jan 14, 2003·Nature Medicine·Zhiheng HeAndrew Bateman
Aug 21, 2003·Journal of Molecular Medicine : Official Organ of the Gesellschaft Deutscher Naturforscher Und Ärzte·Zhiheng He, Andrew Bateman
Mar 3, 2004·Annals of Neurology·Maria Luisa Gorno-TempiniBruce L Miller
Sep 15, 2004·Human Mutation·R RademakersC van Broeckhoven
Jan 13, 2006·Brain : a Journal of Neurology·Ian R MackenzieStuart M Pickering-Brown
Feb 24, 2006·Brain : a Journal of Neurology·Julie van der ZeeBart Dermaut
Sep 5, 2006·Human Molecular Genetics·Jennifer GassRosa Rademakers
Oct 13, 2006·Brain : a Journal of Neurology·Mario MasellisEkaterina Rogaeva
Dec 13, 2006·Neurobiology of Aging·Luisa BenussiRoberta Ghidoni
Feb 7, 2007·Journal of Neuropathology and Experimental Neurology·Keith A JosephsDennis W Dickson
Mar 9, 2007·Human Mutation·Julie van der ZeeChristine Van Broeckhoven
Apr 17, 2007·Human Mutation·Isabelle Le BerUNKNOWN French Research Network on FTD/FTD-MND
May 29, 2007·FEBS Letters·Isabelle Behm-AnsmantElisa Izaurralde
Sep 4, 2007·Behavioural Brain Research·Yuko KayasugaMasugi Nishihara
Oct 6, 2007·Journal of Neuropathology and Experimental Neurology·Salvatore SpinaBernardino Ghetti
Oct 10, 2007·Archives of Neurology·Nathalie BrouwersKristel Sleegers
Oct 24, 2007·Biological Psychiatry·Adolfo López de MunainJosé Félix Martí Massó
Dec 25, 2007·Human Mutation·I GijselinckM Cruts
Jan 11, 2008·Neurology·K SleegersC Van Broeckhoven
Feb 5, 2008·Brain : a Journal of Neurology·Isabelle Le BerUNKNOWN French research network on FTD/FTD-MND
Apr 2, 2008·The Journal of Cell Biology·Philip Van DammeWim Robberecht
May 9, 2008·Movement Disorders : Official Journal of the Movement Disorder Society·Rita Joao GuerreiroJohn Hardy
May 16, 2008·Neurobiology of Disease·Anne Rovelet-LecruxDominique Campion

❮ Previous
Next ❯

Citations

Mar 15, 2016·Neurobiology of Aging·Luisa BenussiRoberta Ghidoni
Jan 23, 2016·Frontiers in Aging Neuroscience·Noelia CalvoAgustín Ibáñez
Oct 24, 2012·Clinical Biochemistry·Roberta GhidoniLuisa Benussi
Jan 15, 2014·Alzheimer's & Dementia : the Journal of the Alzheimer's Association·Michela PievaniGiovanni B Frisoni
Mar 31, 2012·Neurobiology of Aging·Raffaele FerrariParastoo Momeni
Jul 29, 2015·Molecular Neurobiology·Hua JingLan Tan
Dec 19, 2017·Frontiers in Neuroscience·Luisa BenussiRoberta Ghidoni
Sep 14, 2017·The Journal of Pharmacology and Experimental Therapeutics·Francesca LonghenaArianna Bellucci
Dec 12, 2017·Journal of Alzheimer's Disease : JAD·Roberta ZanardiniRoberta Ghidoni

❮ Previous
Next ❯

Related Concepts

Related Feeds

ALS: Phenotypes

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized phenotypically by progressive muscle weakness. Clinical phenotypes of ALS can be classified based on the pattern, level, and area of onset (e.g. bulbar, cervical, lumbar). Here is the latest research investigating phenotypes of ALS.

Amyloid Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating genetic alterations in this genetically heterogeneous disorder.

ALS: Pathogenic Mechanisms

Amyotrophic Lateral Sclerosis is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating pathogenic mechanisms that underlie this genetically heterogeneous disorder.

Anti-inflammatory Treatments

A drug or substance that reduces inflammation (redness, swelling, and pain) in the body. Anti-inflammatory agents block certain substances in the body that cause inflammation and swelling. Discover the latest research on anti-inflammatory treatments here

Alzheimer's Disease: Genetics

Alzheimer's disease is a neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations with this feed.

Bipolar Disorder

Bipolar disorder is characterized by manic and/or depressive episodes and associated with uncommon shifts in mood, activity levels, and energy. Discover the latest research this illness here.

Aphasia

Aphasia affects the ability to process language, including formulation and comprehension of language and speech, as well as the ability to read or write. Here is the latest research on aphasia.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

ALS & FTD: TDP-43

TAR DNA-binding protein 43 (TDP-43) is a pathological protein identified in sporadic Amyotrophic Lateral Sclerosis (ALS) and Frontotemporal Dementia (FTD). Here are the latest discoveries pertaining to TDP-43 and these diseases.

Alzheimer's Disease: Tau & TDP-43

Alzheimer's disease is a neurodegenerative disease. This feed focuses on the underlying role of tau proteins and TAR DNA-binding protein 43, as well as other genetic factors, in Alzheimer's disease.