دورية أكاديمية
أعرض في EDS

Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease.

التفاصيل البيبلوغرافية
العنوان: Genetic modifiers of cognitive decline in PSEN1 E280A Alzheimer's disease.
المؤلفون: Sepulveda-Falla D; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia., Vélez JI; Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia.; Universidad del Norte, Barranquilla, Colombia., Acosta-Baena N; Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia., Baena A; Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia., Moreno S; Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia., Krasemann S; Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lopera F; Grupo de Neurociencias de Antioquia, Universidad de Antioquia, Medellín, Colombia., Mastronardi CA; Genomics and Predictive Medicine Group, Department of Genome Sciences, John Curtin School of Medical Research, The Australian National University, Canberra, Australia.; INPAC Research Group, Fundación Universitaria Sanitas, Bogotá, Colombia., Arcos-Burgos M; Grupo de Investigación en Psiquiatría (GIPSI), Departamento de Psiquiatría, Facultad de Medicina, Instituto de Investigaciones Médicas, Universidad de Antioquia, Medellín, Colombia.
المصدر: Alzheimer's & dementia : the journal of the Alzheimer's Association [Alzheimers Dement] 2024 Apr; Vol. 20 (4), pp. 2873-2885. Date of Electronic Publication: 2024 Mar 07.
نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't
اللغة: English
بيانات الدورية: Publisher: John Wiley & Sons, Ltd Country of Publication: United States NLM ID: 101231978 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-5279 (Electronic) Linking ISSN: 15525260 NLM ISO Abbreviation: Alzheimers Dement Subsets: MEDLINE
أسماء مطبوعة: Publication: 2020- : Hoboken, NJ : John Wiley & Sons, Ltd.
Original Publication: Orlando, FL : Elsevier, Inc.
مواضيع طبية MeSH: Alzheimer Disease*/genetics , Alzheimer Disease*/metabolism , Cognitive Dysfunction*/genetics , Cognitive Dysfunction*/metabolism, Humans ; Brain/metabolism ; Neurons/metabolism ; Presenilin-1/genetics ; Presenilin-1/metabolism ; Mutation/genetics
مستخلص: Introduction: Rate of cognitive decline (RCD) in Alzheimer's disease (AD) determines the degree of impairment for patients and of burden for caretakers. We studied the association of RCD with genetic variants in AD.
Methods: RCD was evaluated in 62 familial AD (FAD) and 53 sporadic AD (SAD) cases, and analyzed by whole-exome sequencing for association with common exonic functional variants. Findings were validated in post mortem brain tissue.
Results: One hundred seventy-two gene variants in FAD, and 227 gene variants in SAD associated with RCD. In FAD, performance decline of the immediate recall of the Rey-Osterrieth figure test associated with 122 genetic variants. Olfactory receptor OR51B6 showed the highest number of associated variants. Its expression was detected in temporal cortex neurons.
Discussion: Impaired olfactory function has been associated with cognitive impairment in AD. Genetic variants in these or other genes could help to identify risk of faster memory decline in FAD and SAD patients.
(© 2024 The Authors. Alzheimer's & Dementia published by Wiley Periodicals LLC on behalf of Alzheimer's Association.)
References: Neurology. 1989 Sep;39(9):1159-65. (PMID: 2771064)
Nucleic Acids Res. 2003 Jul 1;31(13):3812-4. (PMID: 12824425)
Carcinogenesis. 2016 Sep;37(9):888-896. (PMID: 27288692)
Nat Rev Genet. 2010 Nov;11(11):773-85. (PMID: 20940738)
Neuron. 2014 Nov 5;84(3):608-22. (PMID: 25442939)
Am J Psychiatry. 1982 Sep;139(9):1136-9. (PMID: 7114305)
Oncotarget. 2017 May 23;8(41):69663-69679. (PMID: 29050232)
Lancet Neurol. 2017 Apr;16(4):311-322. (PMID: 28327340)
Neurobiol Aging. 2016 May;41:150-158. (PMID: 27103528)
Alzheimers Dement. 2024 Apr;20(4):2873-2885. (PMID: 38450831)
Front Neurosci. 2020 May 19;14:440. (PMID: 32508565)
Mol Psychiatry. 2016 Jul;21(7):916-24. (PMID: 26619808)
N Engl J Med. 2011 Jun 9;364(23):2227-34. (PMID: 21651394)
J Psychiatr Res. 1975 Nov;12(3):189-98. (PMID: 1202204)
Nat Neurosci. 2021 Feb;24(2):276-287. (PMID: 33432193)
Brain. 2014 Apr;137(Pt 4):1167-75. (PMID: 24578544)
Mol Psychiatry. 2013 May;18(5):568-75. (PMID: 22710270)
Acta Neuropathol. 2022 Sep;144(3):589-601. (PMID: 35838824)
Neurobiol Aging. 2023 Mar;123:75-82. (PMID: 36638683)
Alzheimer Dis Assoc Disord. 2016 Jul-Sep;30(3):237-42. (PMID: 27556936)
Biochem Biophys Res Commun. 2018 Jan 1;495(1):533-538. (PMID: 29097202)
PLoS One. 2013;8(2):e55368. (PMID: 23405139)
PLoS Comput Biol. 2010 Dec 02;6(12):e1001025. (PMID: 21152010)
J Alzheimers Dis. 2018;63(1):319-329. (PMID: 29578482)
Nat Commun. 2023 Aug 23;14(1):5120. (PMID: 37612284)
Nat Med. 2023 May;29(5):1243-1252. (PMID: 37188781)
Nature. 1989 Feb 23;337(6209):736-9. (PMID: 2465496)
J Neural Transm (Vienna). 2015 Oct;122(10):1475-97. (PMID: 25944089)
J Neuroimmunol. 2017 Oct 15;311:1-9. (PMID: 28863860)
Twin Res Hum Genet. 2015 Feb;18(1):86-91. (PMID: 25518859)
J Clin Invest. 2014 Apr;124(4):1552-67. (PMID: 24569455)
J Neurosci. 2010 Jan 13;30(2):505-14. (PMID: 20071513)
Oncotarget. 2016 Jun 28;7(26):39108-39117. (PMID: 27259244)
Physiol Rev. 2018 Jul 1;98(3):1739-1763. (PMID: 29897292)
Nat Genet. 2012 Jun 17;44(7):825-30. (PMID: 22706313)
Bioinformatics. 2012 Jan 1;28(1):112-8. (PMID: 22039212)
J Alzheimers Dis. 2019;70(3):691-713. (PMID: 31256118)
Nat Methods. 2010 Aug;7(8):575-6. (PMID: 20676075)
JAMA Neurol. 2016 Apr;73(4):431-8. (PMID: 26902171)
Neurology. 2020 Sep 8;95(10):e1312-e1321. (PMID: 32611637)
Exp Neurol. 2016 Feb;276:13-21. (PMID: 26616239)
Acta Neuropathol. 2014 Apr;127(4):459-75. (PMID: 24554308)
Brain Pathol. 2011 Jul;21(4):452-63. (PMID: 21159009)
J Int Neuropsychol Soc. 2021 Jan;27(1):47-55. (PMID: 32762790)
Front Aging Neurosci. 2016 Jul 05;8:163. (PMID: 27458372)
J Alzheimers Dis. 2012;32(1):1-12. (PMID: 22766738)
Neuroreport. 2001 Feb 12;12(2):285-8. (PMID: 11209936)
NPJ Schizophr. 2017 Feb 24;3:11. (PMID: 28560257)
Neurology. 2011 Apr 12;76(15):1302-9. (PMID: 21482944)
Bipolar Disord. 2016 Aug;18(5):410-22. (PMID: 27440233)
Am J Geriatr Psychiatry. 2016 Dec;24(12):1151-1157. (PMID: 27745824)
Alzheimer Dis Assoc Disord. 2007 Oct-Dec;21(4):S70-8. (PMID: 18090428)
Neural Plast. 2016;2016:9760314. (PMID: 26949549)
Curr Alzheimer Res. 2014 Mar;11(3):274-82. (PMID: 24484280)
Alzheimers Dement (Amst). 2017 Nov 06;10:66-74. (PMID: 29780858)
Nat Methods. 2010 Apr;7(4):248-9. (PMID: 20354512)
Am J Epidemiol. 2010 Jul 15;172(2):217-24. (PMID: 20522537)
Hum Mutat. 2014 Aug;35(8):983-9. (PMID: 24827421)
Brain Imaging Behav. 2017 Apr;11(2):401-409. (PMID: 27743375)
Lancet Neurol. 2011 Mar;10(3):213-20. (PMID: 21296022)
Front Neurosci. 2014 Nov 06;8:331. (PMID: 25414627)
Lancet. 2016 Jul 30;388(10043):505-17. (PMID: 26921134)
Am J Med Genet B Neuropsychiatr Genet. 2016 Dec;171(8):1116-1130. (PMID: 27573710)
Sci Rep. 2015 Mar 16;5:9124. (PMID: 25773295)
Alzheimers Dement (N Y). 2020 Mar 20;6(1):e12007. (PMID: 32211510)
Rev Neurol. 2007 Dec 1-15;45(11):655-60. (PMID: 18050096)
Genome Res. 2010 Jan;20(1):110-21. (PMID: 19858363)
Clin Neuropathol. 2006 Nov-Dec;25(6):265-71. (PMID: 17140156)
Mol Neurobiol. 2017 Jul;54(5):3181-3188. (PMID: 27056075)
Am J Geriatr Psychiatry. 2017 Jul;25(7):730-740. (PMID: 28238814)
Neurobiol Aging. 2015 Jan;36(1):60-7. (PMID: 25189118)
Neuropsychologia. 2015 Aug;75:411-9. (PMID: 26102189)
J Alzheimers Dis. 2022;88(2):721-729. (PMID: 35694921)
Alzheimers Dement. 2013 Jan;9(1):1-11.e3. (PMID: 23305821)
معلومات مُعتمدة: RF1 NS110048 United States NS NINDS NIH HHS
فهرسة مساهمة: Keywords: Alzheimer's disease; PSEN1; genetic variants; olfactory receptors; prognosis; progression disease; rate of cognitive progression; whole exome sequencing
المشرفين على المادة: 0 (Presenilin-1)
0 (PSEN1 protein, human)
تواريخ الأحداث: Date Created: 20240307 Date Completed: 20240422 Latest Revision: 20240716
رمز التحديث: 20240716
مُعرف محوري في PubMed: PMC11032577
DOI: 10.1002/alz.13754
PMID: 38450831
قاعدة البيانات: MEDLINE
الوصف
تدمد:1552-5279
DOI:10.1002/alz.13754