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Article ; Online: A genetic and transcriptomic assessment of the KTN1 gene in Parkinson's disease risk.

Moore, Anni / Crea, Peter Wild / Makarious, Mary / Bandres-Ciga, Sara / Blauwendraat, Cornelis / Diez-Fairen, Monica

2023 Volume 134, Page(s) 66–73

Abstract: Parkinson's disease (PD) is a progressive neurological disorder caused by both genetic and environmental factors. An association has been described between KTN1 genetic variants and changes in its expression in the putamen and substantia nigra brain ... ...

Abstract	Parkinson's disease (PD) is a progressive neurological disorder caused by both genetic and environmental factors. An association has been described between KTN1 genetic variants and changes in its expression in the putamen and substantia nigra brain regions and an increased risk for PD. Here, we examine the link between PD susceptibility and KTN1 using individual-level genotyping data and summary statistics from the most recent genome-wide association studies (GWAS) for PD risk and age at onset from the International Parkinson's Disease Genomics Consortium (IPDGC), as well as whole-genome sequencing data from the Accelerating Medicines Partnership Parkinson's disease (AMP-PD) initiative. To investigate the potential effect of changes in KTN1 expression on PD compared to unaffected individuals, we further assess publicly available expression quantitative trait loci (eQTL) results from GTEx v8 and BRAINEAC and transcriptomics data from AMP-PD. Overall, we found no genetic associations between KTN1 and PD in our cohorts but found potential evidence of differences in mRNA expression, which needs to be further explored.
MeSH term(s)	Humans ; Transcriptome ; Parkinson Disease/genetics ; Putamen/metabolism ; Pars Compacta/metabolism ; RNA, Messenger ; Middle Aged ; Genetic Variation ; Cohort Studies ; Membrane Proteins/genetics
Chemical Substances	KTN1 protein, human ; RNA, Messenger ; Membrane Proteins
Language	English
Publishing date	2023-11-10
Publishing country	United States
Document type	Journal Article
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2023.11.001
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Zs.A 1685: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
Zs.MG 10: Show issues

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Article ; Online: The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.

Diez-Fairen, Monica / Alvarez Jerez, Pilar / Berghausen, Joos / Bandres-Ciga, Sara

International journal of molecular sciences

2021 Volume 22, Issue 15

Abstract: In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations and ... ...

Abstract	In recent decades, genetic research has nominated promising pathways and biological insights contributing to the etiological landscape of parkinsonism-related dystonias and atypical parkinsonism-related syndromes. Several disease-causing mutations and genetic risk factors have been unraveled, providing a deeper molecular understanding of the complex genetic architecture underlying these conditions. These disorders are difficult to accurately diagnose and categorize, thus making genetics research challenging. On one hand, dystonia is an umbrella term linked to clinically heterogeneous forms of disease including dopa-responsive dystonia, myoclonus-dystonia, rapid-onset dystonia-parkinsonism and dystonia-parkinsonism, often viewed as a precursor to Parkinson's disease. On the other hand, atypical parkinsonism disorders, such as progressive supranuclear palsy, multiple system atrophy and corticobasal degeneration, are rare in nature and represent a wide range of diverse and overlapping phenotypic variabilities, with genetic research limited by sample size availability. The current review summarizes the plethora of available genetic information for these diseases, outlining limits and future directions.
MeSH term(s)	Dystonia/genetics ; Humans ; Multiple System Atrophy/genetics ; Parkinson Disease/genetics ; Parkinsonian Disorders/genetics ; Supranuclear Palsy, Progressive/genetics
Language	English
Publishing date	2021-07-28
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms22158100
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Article ; Online: Genetics of Parkinson's disease: An introspection of its journey towards precision medicine.

Bandres-Ciga, Sara / Diez-Fairen, Monica / Kim, Jonggeol Jeff / Singleton, Andrew B

Neurobiology of disease

2020 Volume 137, Page(s) 104782

Abstract: A substantial proportion of risk for Parkinson's disease (PD) is driven by genetics. Progress in understanding the genetic basis of PD has been significant. So far, highly-penetrant rare genetic alterations in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1 and ... ...

Abstract	A substantial proportion of risk for Parkinson's disease (PD) is driven by genetics. Progress in understanding the genetic basis of PD has been significant. So far, highly-penetrant rare genetic alterations in SNCA, LRRK2, VPS35, PRKN, PINK1, DJ-1 and GBA have been linked with typical familial PD and common genetic variability at 90 loci have been linked to risk for PD. In this review, we outline the journey thus far of PD genetics, highlighting how significant advances have improved our knowledge of the genetic basis of PD risk, onset and progression. Despite remarkable progress, our field has yet to unravel how genetic risk variants disrupt biological pathways and molecular networks underlying the pathobiology of the disease. We highlight that currently identified genetic risk factors only represent a fraction of the likely genetic risk for PD. Identifying the remaining genetic risk will require us to diversify our efforts, performing genetic studies across different ancestral groups. This work will inform us on the varied genetic basis of disease across populations and also aid in fine mapping discovered loci. If we are able to take this course, we foresee that genetic discoveries in PD will directly influence our ability to predict disease and aid in defining etiological subtypes, critical steps for the implementation of precision medicine for PD.
MeSH term(s)	Genetic Predisposition to Disease/genetics ; Humans ; Mutation/genetics ; Parkinson Disease/genetics ; Precision Medicine ; Risk Factors ; Ubiquitin-Protein Ligases/genetics
Chemical Substances	Ubiquitin-Protein Ligases (EC 2.3.2.27)
Language	English
Publishing date	2020-01-25
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S. ; Review
ZDB-ID	1211786-9
ISSN	1095-953X ; 0969-9961
ISSN (online)	1095-953X
ISSN	0969-9961
DOI	10.1016/j.nbd.2020.104782
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Article ; Online: Assessment of LIN28A variants in Parkinson's disease in large European cohorts.

Diez-Fairen, Monica / Makarious, Mary B / Bandres-Ciga, Sara / Blauwendraat, Cornelis

Neurobiology of aging

2020 Volume 100, Page(s) 118.e1–118.e3

Abstract: Parkinson's disease (PD) is a complex neurodegenerative disease with a strong genetic component. To date, several genes have been associated with monogenic forms of the disease, but these only explain a small fraction of the observed familial aggregation ...

Abstract	Parkinson's disease (PD) is a complex neurodegenerative disease with a strong genetic component. To date, several genes have been associated with monogenic forms of the disease, but these only explain a small fraction of the observed familial aggregation in PD. Recently, a heterozygous loss-of-function variant in LIN28A was associated with PD pathogenesis in the Asian population. Here, we comprehensively investigate the role of LIN28A variants in PD patients of European ancestry and assess susceptibility using individual-level genotyping data from 14,671 PD cases and 17,667 controls, as well as whole-genome sequencing data from 1647 patients with PD and 1050 controls. In addition, we further assess the summary statistics from the most recent genome-wide association studies meta-analyses to date for PD risk and age at onset. After evaluating these data, we did not find evidence to support a role for LIN28A as a major causal gene for PD. However, additional large-scale familial and case-control studies in non-European ancestry populations are necessary to further evaluate the role of LIN28A in PD etiology.
MeSH term(s)	Age of Onset ; Aged ; Cohort Studies ; Data Interpretation, Statistical ; Databases, Genetic ; Genetic Predisposition to Disease/genetics ; Genome-Wide Association Study ; Humans ; Loss of Function Mutation/genetics ; Male ; Meta-Analysis as Topic ; Middle Aged ; Negative Results ; Parkinson Disease/epidemiology ; Parkinson Disease/genetics ; RNA-Binding Proteins/genetics ; Risk Factors ; Whites/genetics
Chemical Substances	Lin28A protein, human ; RNA-Binding Proteins
Language	English
Publishing date	2020-12-11
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, Non-P.H.S.
ZDB-ID	604505-4
ISSN	1558-1497 ; 0197-4580
ISSN (online)	1558-1497
ISSN	0197-4580
DOI	10.1016/j.neurobiolaging.2020.12.002
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Zs.A 1685: Show issues			Location: Je nach Verfügbarkeit (siehe Angabe bei Bestand) bis Jg. 1994: Bestellungen von Artikeln über das Online-Bestellformular Jg. 1995 - 2021: Lesesall (1.OG) ab Jg. 2022: Lesesaal (EG)
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Article ; Online: Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways.

Hall, Ashley / Bandres-Ciga, Sara / Diez-Fairen, Monica / Quinn, John P / Billingsley, Kimberley J

International journal of molecular sciences

2020 Volume 21, Issue 19

Abstract: Parkinson's disease (PD) is a complex disorder underpinned by both environmental and genetic factors. The latter only began to be understood around two decades ago, but since then great inroads have rapidly been made into deconvoluting the genetic ... ...

Abstract	Parkinson's disease (PD) is a complex disorder underpinned by both environmental and genetic factors. The latter only began to be understood around two decades ago, but since then great inroads have rapidly been made into deconvoluting the genetic component of PD. In particular, recent large-scale projects such as genome-wide association (GWA) studies have provided insight into the genetic risk factors associated with genetically ''complex'' PD (PD that cannot readily be attributed to single deleterious mutations). Here, we discuss the plethora of genetic information provided by PD GWA studies and how this may be utilized to generate polygenic risk scores (PRS), which may be used in the prediction of risk and trajectory of PD. We also comment on how pathway-specific genetic profiling can be used to gain insight into PD-related biological pathways, and how this may be further utilized to nominate causal PD genes and potentially druggable therapeutic targets. Finally, we outline the current limits of our understanding of PD genetics and the potential contribution of variation currently uncaptured in genetic studies, focusing here on uncatalogued structural variants.
MeSH term(s)	Genetic Predisposition to Disease ; Genome-Wide Association Study ; Humans ; Parkinson Disease/genetics ; Parkinson Disease/pathology ; Polymorphism, Single Nucleotide/genetics ; Risk Factors ; Signal Transduction/genetics
Language	English
Publishing date	2020-10-04
Publishing country	Switzerland
Document type	Journal Article ; Review
ZDB-ID	2019364-6
ISSN	1422-0067 ; 1422-0067 ; 1661-6596
ISSN (online)	1422-0067
ISSN	1422-0067 ; 1661-6596
DOI	10.3390/ijms21197332
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Article ; Online: Vitamin D Receptor and Binding Protein Gene Variants in Patients with Essential Tremor.

Agúndez, José A G / García-Martín, Elena / Alonso-Navarro, Hortensia / Rodríguez, Christopher / Díez-Fairén, Mónica / Álvarez, Ignacio / Pastor, Pau / Benito-León, Julián / López-Alburquerque, Tomás / Jiménez-Jiménez, Félix Javier

Molecular neurobiology

2022 Volume 59, Issue 6, Page(s) 3458–3466

Abstract: Several studies have shown an association between some variants in the vitamin D receptor (VDR) and the GC vitamin D binding protein (GC) genes with the risk for Parkinson's disease or other neurological disorders. VDR rs2228570 has shown an association ... ...

Abstract	Several studies have shown an association between some variants in the vitamin D receptor (VDR) and the GC vitamin D binding protein (GC) genes with the risk for Parkinson's disease or other neurological disorders. VDR rs2228570 has shown an association with essential tremor (ET) in a previous study. The aim of this study is to look for the association between several common variants in these genes and the risk for ET. We genotyped 272 patients diagnosed with familial ET and 272 age-matched controls using specific TaqMan assays for VDR rs2228570, VDR rs731236, VDR rs7975232, VDR rs739837, VDR rs78783628, GC rs7041, and GC rs4588 single nucleotide variants (SNVs). We found an association between GC rs7041 SNV and ET using recessive, codominant, and allelic models. Despite our results did not find an association between VDR rs2228570 and ET, the pooled data with those by a previous report suggest this association under recessive, codominant, and allelic models. None of the SNVs studied was related to the age at onset of tremor in ET patients. Data from the current study suggest an association between GC rs7041 and VDR rs2228570 SNVs and ET risk.
MeSH term(s)	Alleles ; Case-Control Studies ; Essential Tremor/genetics ; Genetic Predisposition to Disease ; Genotype ; Humans ; Polymorphism, Single Nucleotide/genetics ; Receptors, Calcitriol/genetics ; Vitamin D ; Vitamin D-Binding Protein/genetics
Chemical Substances	Receptors, Calcitriol ; VDR protein, human ; Vitamin D-Binding Protein ; Vitamin D (1406-16-2)
Language	English
Publishing date	2022-03-24
Publishing country	United States
Document type	Journal Article
ZDB-ID	645020-9
ISSN	1559-1182 ; 0893-7648
ISSN (online)	1559-1182
ISSN	0893-7648
DOI	10.1007/s12035-022-02804-8
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Zs.A 2411: Show issues

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Article ; Online: Polymorphisms in the oxytocin receptor and their association with apathy and impaired social cognition in Huntington's disease.

Saiz-Rodríguez, Miriam / Gil-Polo, Cecilia / Diez-Fairen, Mónica / Martinez-Horta, Saul-Indra / Sampedro Santalo, Frederic / Calvo, Sara / Alonso-García, Esther / Riñones-Mena, Esther / Aguado, Laura / Mariscal, Natividad / Muñoz-Siscart, Ignacio / Piñeiro, Dolores / Rivadeneyra, Jessica / Cubo, Esther

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

2022 Volume 43, Issue 10, Page(s) 6079–6085

Abstract: Background: Huntington's disease (HD) is a neurodegenerative disorder characterized by cognitive, motor, and neuropsychiatric manifestations. Oxytocin is a neuropeptide studied for its role as a neuromodulator regulating multiple behaviors linked to ... ...

Abstract	Background: Huntington's disease (HD) is a neurodegenerative disorder characterized by cognitive, motor, and neuropsychiatric manifestations. Oxytocin is a neuropeptide studied for its role as a neuromodulator regulating multiple behaviors linked to social cognition. Genetic variation of oxytocin receptor (OXTR) might interact in the etiology and development of several impaired social behaviors. Our aim was to study OXTR polymorphisms and their relationship with apathy and social cognition in HD. Methods: OXTR was sequenced in 21 cases and 22 controls. We assessed apathy, anxiety, depression, and irritability (Hospital Anxiety and Depression Scale-Snaith Irritability scale, HADS-SIS) and social cognition (Ekman 60 faces test), motor symptoms and functionality with the total functional capacity (TFC), and the Unified HD rating Scale (UHDRS). Results: We identified ten variants in OXTR. Three variants were classified as possibly damaging (p.Arg40Gly) or probably damaging (p.Leu46Pro, p.Thr102Asn). Subjects carrying the wild-type genotype of the synonymous variant p.Val45 showed a significantly lower score in the HADS-SIS scale, related to lower irritability (p = 0.013). The only subject carrying the heterozygous genotype of the synonymous variant p.Leu62 showed a significantly higher score on Ekman scale, compared to wild-type (p = 0.049); however, this finding was not confirmed after bootstrapping. Conclusion: Variations in OXTR could have a relevant role in the correct development of social and cognitive functions. Future approaches will include the molecular study of p.Arg40Gly, p.Leu46Pro, and p.Thr102Asn to confirm their pathogenicity, as well as the validation of the influence of p.Val45 and p.Leu62 variants for their involvement in irritability and social cognition in HD.
MeSH term(s)	Apathy ; Humans ; Huntington Disease/complications ; Huntington Disease/genetics ; Irritable Mood ; Receptors, Oxytocin/genetics ; Social Cognition
Chemical Substances	OXTR protein, human ; Receptors, Oxytocin
Language	English
Publishing date	2022-06-21
Publishing country	Italy
Document type	Journal Article
ZDB-ID	2016546-8
ISSN	1590-3478 ; 1590-1874
ISSN (online)	1590-3478
ISSN	1590-1874
DOI	10.1007/s10072-022-06226-1
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Article: Serum Trace Elements Concentrations in Patients with Restless Legs Syndrome

Jiménez-Jiménez, Félix Javier / Ayuso, Pedro / Alonso-Navarro, Hortensia / Calleja, Marisol / Díez-Fairén, Mónica / Álvarez, Ignacio / Pastor, Pau / Plaza-Nieto, José Francisco / Navarro-Muñoz, Santiago / Turpín-Fenoll, Laura / Millán-Pascual, Jorge / Recio-Bermejo, Marta / García-Ruiz, Rafael / García-Albea, Esteban / Agúndez, José A. G. / García-Martín, Elena

Antioxidants. 2022 Jan. 29, v. 11, no. 2

2022

Abstract: Increased brain and serum zinc levels in patients with idiopathic restless legs syndrome (idiopathic RLS or iRLS) were described when compared with controls, suggesting a possible role of zinc in the pathogenesis of this disease. However, serum magnesium, ...

Abstract	Increased brain and serum zinc levels in patients with idiopathic restless legs syndrome (idiopathic RLS or iRLS) were described when compared with controls, suggesting a possible role of zinc in the pathogenesis of this disease. However, serum magnesium, calcium, manganese, iron, and copper levels of RLS patients were similar to controls, suggesting a specific impairment of zinc-dependent metabolism in RLS. The aim of this study is to assess the serum concentrations of trace elements involved in oxidative stress or causing peripheral nerve toxicity in a large series of patients with iRLS and controls. We determined serum levels of iron, copper, manganese, zinc, magnesium, selenium, calcium, aluminium, lead, cadmium, arsenic and mercury in 100 patients diagnosed with iRLS and in 110 age- and sex-matched controls using Inductively Coupled Plasma Mass Spectrometry. Serum copper, magnesium, selenium, and calcium concentrations were significantly higher in RLS patients than in controls. These differences were observed both in men and women. There were no major correlations between serum trace metal concentrations and age at onset of RLS or RLS severity, nor was there any association with a family history of RLS or drug response. This study shows an association between increased serum concentrations of copper, magnesium, selenium, and calcium with RLS in a Spanish Caucasian population and does not confirm the previously reported increase in serum zinc concentrations in patients suffering from this disease, suggesting that the different accuracy of the analytical methods used could have influenced the inconsistent results found in the literature.
Keywords	aluminum ; arsenic ; atomic absorption spectrometry ; blood serum ; brain ; cadmium ; calcium ; copper ; drugs ; iron ; lead ; magnesium ; manganese ; mercury ; metabolism ; nerve tissue ; oxidative stress ; pathogenesis ; selenium ; toxicity ; zinc
Language	English
Dates of publication	2022-0129
Publishing place	Multidisciplinary Digital Publishing Institute
Document type	Article
ZDB-ID	2704216-9
ISSN	2076-3921
ISSN	2076-3921
DOI	10.3390/antiox11020272
Database	NAL-Catalogue (AGRICOLA)

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Article ; Online: Assessing the NOTCH2NLC GGC expansion in European patients with essential tremor.

Liao, Calwing / Akçimen, Fulya / Diez-Fairen, Monica / Houle, Gabrielle / Ross, Jay P / Schmilovich, Zoe / Spiegelman, Dan / Vuokila, Veikko / Catoire, Hélène / Meijer, Inge A / Pastor, Pau / Rajput, Alex / Dion, Patrick A / Rouleau, Guy A

Brain : a journal of neurology

2020 Volume 143, Issue 11, Page(s) e89

MeSH term(s)	Essential Tremor/genetics ; Humans ; Intranuclear Inclusion Bodies ; Trinucleotide Repeat Expansion
Language	English
Publishing date	2020-11-04
Publishing country	England
Document type	Letter ; Research Support, Non-U.S. Gov't ; Comment
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awaa291
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Article ; Online: Added value of cerebrospinal fluid multimarker analysis in diagnosis and progression of dementia.

Álvarez, Ignacio / Diez-Fairen, Monica / Aguilar, Miquel / González, Jose Manuel / Ysamat, Montse / Tartari, Juan Pablo / Carcel, Maria / Alonso, Alvaro / Brix, Britta / Arendt, Philipp / Pastor, Pau

European journal of neurology

2020 Volume 28, Issue 4, Page(s) 1142–1152

Abstract: Background and purpose: Recently, some emerging cerebrospinal fluid (CSF) markers have been proposed as diagnostic tools for Alzheimer disease (AD) that can have an effect on disease progression. We analyze the accuracy of these CSF markers for ... ...

Abstract	Background and purpose: Recently, some emerging cerebrospinal fluid (CSF) markers have been proposed as diagnostic tools for Alzheimer disease (AD) that can have an effect on disease progression. We analyze the accuracy of these CSF markers for diagnosis of AD in reference to brain amyloid positron emission tomography (PET). We also investigated whether they help in differentiating AD from other dementias and examined their influence in tracing the progression to dementia. Methods: Amyloid-β (Aβ) 1-42, total tau (t-tau), phosphorylated tau, Aβ Results: Emerging CSF markers, especially ng/BACE-1 ratio (area under the curve = 0.77) and their combinations with core AD CSF markers (all AUCs >0.85), showed high accuracy to discriminate amyloid PET positivity. Subjects with AD had higher CSF BACE-1, ng, and α-syn levels than those with non-AD dementia. CSF t-tau/α-syn ratio was higher in subjects with dementia with Lewy bodies than in those with frontotemporal dementia. Most emerging/core AD ratios predicted a faster conversion from mild cognitive impairment (MCI) stage to AD and appeared to be helpful when core AD CSF markers were discordant. In addition, the rate of cognitive decline was associated with all CSF core AD markers, several emerging/core AD two-marker ratios, and CSF ng levels. Conclusions: These results suggest that emerging biomarkers in conjunction with core AD markers improve diagnosis of AD, are associated with the conversion from MCI into AD, and predict a faster progression of dementia.
MeSH term(s)	Alzheimer Disease/diagnostic imaging ; Amyloid beta-Peptides ; Biomarkers ; Cognitive Dysfunction/diagnostic imaging ; Frontotemporal Dementia/diagnostic imaging ; Humans ; Peptide Fragments ; Positron-Emission Tomography ; tau Proteins
Chemical Substances	Amyloid beta-Peptides ; Biomarkers ; Peptide Fragments ; tau Proteins
Language	English
Publishing date	2020-12-14
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1280785-0
ISSN	1468-1331 ; 1351-5101 ; 1471-0552
ISSN (online)	1468-1331
ISSN	1351-5101 ; 1471-0552
DOI	10.1111/ene.14658
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