Progranulin in neurodegenerative diseases

被引:0
作者
Harmata, Barbara [1 ]
Jedrzejowska-Szypulka, Halina [1 ]
Pawletko, Katarzyna [1 ]
Lewin-Kowalik, Joanna [1 ]
机构
[1] Slaski Uniwersytet Med Katowicach, Wydzial Lekarski Katowicach, Katedra & Zaklad Fizjol, Ul Medykow 18, PL-40752 Katowice, Poland
来源
POSTEPY HIGIENY I MEDYCYNY DOSWIADCZALNEJ | 2018年 / 72卷
关键词
progranulin; neurodegeneration; frontotemporal dementia; Alzheimer's disease; Parkinson's disease; spinal cord injury; ischemic stroke; toxins; FRONTOTEMPORAL LOBAR DEGENERATION; CELLULAR-LOCALIZATION; GENE-EXPRESSION; MUTATIONS; PROTEIN; BRAIN; NEUROPATHOLOGY; INCLUSIONS; PRECURSOR; SEQUENCE;
D O I
10.5604/01.3001.0012.7836
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
Neurodegenerative diseases as a group of congenital or acquired diseases of the nervous system are currently more common in the aging societies, being one of the most severe diseases faced the healthcare services. Many scientific teams are searching for a better understanding of the mechanisms of these diseases, i.e. their detection, treatment as well as putative prevention methods. Progranulin is one of the twenty-first century discoveries and is a precursor of multifunctional cysteine-rich proteins granulins, which play a crucial role in cell development, cell cycle control, wound healing, inflammatory and cancerogenic processes, neuron development, and neurodegeneration. In 2006, the first mutation in the gene encoding progranulin was discovered as the cause of frontotemporal dementia (FTLD). The human PGRN sequence was first fully characterized on the basis of mRNA isolated from bone marrow cells. Up to now, more than 75 mutations have been reported in patients with various forms of FTLD. All discovered mutations cause the disease either by loss of function of the entire progranulin protein or loss of function of one allele of the PGRN gene. Taking into account the available data regarding PGRN, we would like to collect and systematize the data about progranulin and its putative usefulness as a prognostic factor in some neurodegenerative diseases. The role of progranulin in neurodegenerative diseases is invaluable, not only as a prognostic factor in the presymptomatic stage of the disease but also as a chance for its future therapeutic application in neurodegenerative diseases. Low levels of progranulin were found to correlate with either prodromal symptoms or even asymptomatic stages in patients with established mutations in the progranulin-encoding gene. Research currently in progress provides valuable information about the possibility of this protein being used to improve the diagnosis as well as treatment of different neurodegenerative diseases.
引用
收藏
页码:1052 / 1061
页数:10
相关论文
共 54 条
  • [1] Accelerated Lipofuscinosis and Ubiquitination in Granulin Knockout Mice Suggest a Role for Progranulin in Successful Aging
    Ahmed, Zeshan
    Sheng, Hong
    Xu, Ya-fei
    Lin, Wen-Lang
    Innes, Amy E.
    Gass, Jennifer
    Yu, Xin
    Hou, Harold
    Chiba, Shuichi
    Yamanouchi, Keitaro
    Leissring, Malcolm
    Petrucelli, Leonard
    Nishihara, Masugi
    Hutton, Michael L.
    McGowan, Eileen
    Dickson, Dennis W.
    Lewis, Jada
    [J]. AMERICAN JOURNAL OF PATHOLOGY, 2010, 177 (01) : 311 - 324
  • [2] Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17
    Baker, Matt
    Mackenzie, Ian R.
    Pickering-Brown, Stuart M.
    Gass, Jennifer
    Rademakers, Rosa
    Lindholm, Caroline
    Snowden, Julie
    Adamson, Jennifer
    Sadovnick, A. Dessa
    Rollinson, Sara
    Cannon, Ashley
    Dwosh, Emily
    Neary, David
    Melquist, Stacey
    Richardson, Anna
    Dickson, Dennis
    Berger, Zdenek
    Eriksen, Jason
    Robinson, Todd
    Zehr, Cynthia
    Dickey, Chad A.
    Crook, Richard
    McGowan, Eileen
    Mann, David
    Boeve, Bradley
    Feldman, Howard
    Hutton, Mike
    [J]. NATURE, 2006, 442 (7105) : 916 - 919
  • [3] Berdynski M, 2014, THESIS, P20
  • [4] Structural and functional analysis of a promoter of the human granulin/epithelin gene
    Bhandari, V
    Daniel, R
    Lim, PS
    Bateman, A
    [J]. BIOCHEMICAL JOURNAL, 1996, 319 : 441 - 447
  • [5] ISOLATION AND SEQUENCE OF THE GRANULIN PRECURSOR CDNA FROM HUMAN BONE-MARROW REVEALS TANDEM CYSTEINE-RICH GRANULIN DOMAINS
    BHANDARI, V
    PALFREE, RGE
    BATEMAN, A
    [J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1992, 89 (05) : 1715 - 1719
  • [6] THE COMPLEMENTARY DEOXYRIBONUCLEIC-ACID SEQUENCE, TISSUE DISTRIBUTION, AND CELLULAR-LOCALIZATION OF THE RAT GRANULIN PRECURSOR
    BHANDARI, V
    GIAID, A
    BATEMAN, A
    [J]. ENDOCRINOLOGY, 1993, 133 (06) : 2682 - 2689
  • [7] Loss of function mutations in the progranulin gene are related to pro-inflammatory cytokine dysregulation in frontotemporal lobar degeneration patients
    Bossu, Paola
    Salani, Francesca
    Alberici, Antonella
    Archetti, Silvana
    Bellelli, Giuseppe
    Galimberti, Daniela
    Scarpini, Elio
    Spalletta, Gianfranco
    Caltagirone, Carlo
    Padovani, Alessandro
    Borroni, Barbara
    [J]. JOURNAL OF NEUROINFLAMMATION, 2011, 8
  • [8] Delayed inflammatory mRNA and protein expression after spinal cord injury
    Byrnes, Kimberly R.
    Washington, Patricia M.
    Knoblach, Susan M.
    Hoffman, Eric
    Faden, Alan I.
    [J]. JOURNAL OF NEUROINFLAMMATION, 2011, 8
  • [9] Rescue of Progranulin Deficiency Associated with Frontotemporal Lobar Degeneration by Alkalizing Reagents and Inhibition of Vacuolar ATPase
    Capell, Anja
    Liebscher, Sabine
    Fellerer, Katrin
    Brouwers, Nathalie
    Willem, Michael
    Lammich, Sven
    Gijselinck, Ilse
    Bittner, Tobias
    Carlson, Aaron M.
    Sasse, Florenz
    Kunze, Brigitte
    Steinmetz, Heinrich
    Jansen, Rolf
    Dormann, Dorothee
    Sleegers, Kristel
    Cruts, Marc
    Herms, Jochen
    Van Broeckhoven, Christine
    Haass, Christian
    [J]. JOURNAL OF NEUROSCIENCE, 2011, 31 (05) : 1885 - 1894
  • [10] Extensive White Matter Involvement in Patients With Frontotemporal Lobar Degeneration Think Progranulin
    Caroppo, Paola
    Le Ber, Isabelle
    Camuzat, Agnes
    Clot, Fabienne
    Naccache, Lionel
    Lamari, Foudil
    De Septenville, Anne
    Bertrand, Anne
    Belliard, Serge
    Hannequin, Didier
    Colliot, Olivier
    Brice, Alexis
    [J]. JAMA NEUROLOGY, 2014, 71 (12) : 1562 - 1566