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A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?

التفاصيل البيبلوغرافية
العنوان: A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
المؤلفون: Bottillo I; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy., Laino L; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy., Azzarà A; Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy., Lintas C; Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy., Cassano I; Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy., Di Lazzaro V; Department of Medicine and Surgery, Unit of Neurology, Neurophysiology, Neurobiology and Psychiatry, Università Campus Bio-Medico di Roma, Rome, Italy.; Unit of Neurology, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy., Ursini F; Unit of Neurology, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy., Motolese F; Department of Medicine and Surgery, Unit of Neurology, Neurophysiology, Neurobiology and Psychiatry, Università Campus Bio-Medico di Roma, Rome, Italy.; Unit of Neurology, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy., Bargiacchi S; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy., Formicola D; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy., Grammatico P; Division of Medical Genetics, Department of Experimental Medicine, San Camillo-Forlanini Hospital, Sapienza University, Rome, Italy., Gurrieri F; Research Unit of Medical Genetics, Department of Medicine and Surgery, Università Campus Bio-Medico di Roma, Rome, Italy.; Operative Research Unit of Medical Genetics, Fondazione Policlinico Universitario Campus Bio-Medico, Rome, Italy.
المصدر: Frontiers in neuroscience [Front Neurosci] 2024 Jan 05; Vol. 17, pp. 1304080. Date of Electronic Publication: 2024 Jan 05 (Print Publication: 2023).
نوع المنشور: Journal Article
اللغة: English
بيانات الدورية: Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101478481 Publication Model: eCollection Cited Medium: Print ISSN: 1662-4548 (Print) Linking ISSN: 1662453X NLM ISO Abbreviation: Front Neurosci Subsets: PubMed not MEDLINE
أسماء مطبوعة: Original Publication: Lausanne : Frontiers Research Foundation
مستخلص: Introduction: Folliculin, encoded by FLCN gene, plays a role in the mTORC1 autophagy cascade and its alterations are responsible for the Birt-Hogg-Dubé (BHD) syndrome, characterized by follicle hamartomas, kidney tumors and pneumothorax.
Patient and Results: We report a 74-years-old woman diagnosed with dementia and carrying a FLCN alteration in absence of any sign of BHD. She also carried an alteration of MAT1A gene, which is also implicated in the regulation of mTORC1.
Discussion: The MAT1A variant could have prevented the development of a FLCN -related oncological phenotype. Conversely, our patient presented with dementia that, to date, has yet to be documented in BHD. Folliculin belongs to the DENN family proteins, which includes C9orf72 whose alteration has been associated to neurodegeneration. The folliculin perturbation could affect the C9orf72 activity and our patient could represent the first human model of a relationship between FLCN and C9orf72 across the path of autophagy.
Competing Interests: The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest. The author(s) declared that they were an editorial board member of Frontiers, at the time of submission. This had no impact on the peer review process and the final decision.
(Copyright © 2024 Bottillo, Laino, Azzarà, Lintas, Cassano, Di Lazzaro, Ursini, Motolese, Bargiacchi, Formicola, Grammatico and Gurrieri.)
References: J Psychiatr Res. 1975 Nov;12(3):189-98. (PMID: 1202204)
Trends Cell Biol. 2022 Nov;32(11):920-931. (PMID: 35654731)
Nature. 2020 Sep;585(7826):597-602. (PMID: 32612235)
Exp Mol Med. 2023 Jun;55(6):1076-1089. (PMID: 37258576)
Genes (Basel). 2023 Apr 17;14(4):. (PMID: 37107688)
Traffic. 2017 May;18(5):267-276. (PMID: 28266105)
Nat Med. 2013 Aug;19(8):983-97. (PMID: 23921753)
Nature. 2019 Aug;572(7769):397-401. (PMID: 31367041)
EMBO J. 2021 Oct 1;40(19):e108863. (PMID: 34459017)
Science. 2017 Nov 10;358(6364):813-818. (PMID: 29123071)
J Clin Invest. 1996 Aug 15;98(4):1021-7. (PMID: 8770875)
Nat Med. 2019 May;25(5):825-837. (PMID: 31061538)
Nat Rev Mol Cell Biol. 2023 Aug;24(8):560-575. (PMID: 36864290)
Mol Med. 2016 Sep;22:147-155. (PMID: 26933843)
Pediatr Dermatol. 2016 Sep;33(5):e294-5. (PMID: 27470329)
Nat Rev Urol. 2015 Oct;12(10):558-69. (PMID: 26334087)
Oncogene. 2008 Dec;27 Suppl 2:S43-51. (PMID: 19956179)
Mol Biol Cell. 2016 Oct 15;27(20):3040-3051. (PMID: 27559131)
Cell. 2014 Dec 4;159(6):1263-76. (PMID: 25480292)
Br J Dermatol. 2010 Mar;162(3):527-37. (PMID: 19785621)
Bioinformatics. 2013 Feb 15;29(4):499-503. (PMID: 23329412)
Matrix Biol. 2021 Jun;100-101:65-83. (PMID: 33429026)
Nat Rev Cancer. 2019 Nov;19(11):625-637. (PMID: 31515518)
Neurobiol Aging. 2014 Jul;35(7):1779.e5-1779.e13. (PMID: 24559645)
FEBS Lett. 2023 Mar;597(6):750-761. (PMID: 36367440)
Neuron. 2021 Jul 21;109(14):2275-2291.e8. (PMID: 34133945)
Nature. 2006 Jun 15;441(7095):880-4. (PMID: 16625205)
Neuron. 2011 Oct 20;72(2):245-56. (PMID: 21944778)
Gene. 2018 Jan 15;640:28-42. (PMID: 28970150)
Genet Med. 2015 May;17(5):405-24. (PMID: 25741868)
Open Biol. 2012 Aug;2(8):120071. (PMID: 22977732)
Sci Signal. 2014 Jan 21;7(309):ra9. (PMID: 24448649)
Am J Med Genet A. 2016 Dec;170(12):3323-3326. (PMID: 27643397)
Ageing Res Rev. 2021 Dec;72:101464. (PMID: 34551326)
Trends Genet. 1997 Feb;13(2):51-2. (PMID: 9055605)
Orphanet J Rare Dis. 2015 Aug 20;10:99. (PMID: 26289392)
Clin Cancer Res. 2008 Sep 15;14(18):5925-30. (PMID: 18794106)
Open Biol. 2015 Dec;5(12):150174. (PMID: 26631379)
فهرسة مساهمة: Keywords: Birt–Hogg–Dubé (BHD); FLCN; autophagy; dementia; folliculin; methionine
تواريخ الأحداث: Date Created: 20240122 Latest Revision: 20240123
رمز التحديث: 20240123
مُعرف محوري في PubMed: PMC10796570
DOI: 10.3389/fnins.2023.1304080
PMID: 38249578
قاعدة البيانات: MEDLINE
الوصف
تدمد:1662-4548
DOI:10.3389/fnins.2023.1304080