SwePub
Sök i LIBRIS databas

  Utökad sökning

WFRF:(De Koning Tom J.)
 

Sökning: WFRF:(De Koning Tom J.) > Methylation of the ...

LIBRIS Formathandbok  (Information om MARC21)
FältnamnIndikatorerMetadata
00004610naa a2200445 4500
001oai:lup.lub.lu.se:feb17e8b-3290-4e0c-a5f2-c75f6e6f345d
003SwePub
008230110s2022 | |||||||||||000 ||eng|
0247 a https://lup.lub.lu.se/record/feb17e8b-3290-4e0c-a5f2-c75f6e6f345d2 URI
0247 a https://doi.org/10.1186/s13148-022-01384-72 DOI
040 a (SwePub)lu
041 a engb eng
042 9 SwePub
072 7a art2 swepub-publicationtype
072 7a ref2 swepub-contenttype
1001 a Timmers, Elze Ru University of Groningen4 aut
2451 0a Methylation of the serotonin reuptake transporter gene and non-motor symptoms in dystonia patients
264 c 2022-12-11
264 1b Springer Science and Business Media LLC,c 2022
520 a BACKGROUND: Dystonia is a rare movement disorder, in which patients suffer from involuntary twisting movements or abnormal posturing. Next to these motor symptoms, patients have a high prevalence of psychiatric comorbidity, suggesting a role for serotonin in its pathophysiology. This study investigates the percentage of DNA methylation of the gene encoding for the serotonin reuptake transporter (SLC6A4) in dystonia patients and the associations between methylation levels and presence and severity of psychiatric symptoms.METHODS: Patients with cervical dystonia (n = 49), myoclonus dystonia (n = 41) and dopa-responsive dystonia (DRD) (n = 27) and a group of healthy controls (n = 56) were included. Psychiatric comorbidity was evaluated with validated questionnaires. Methylation levels of 20 CpG sites situated 69 to 213 base pairs upstream of the start codon of SLC6A4 were investigated. Methylation in dystonia patients was compared to healthy controls, correcting for age, and correlated with psychiatric comorbidity.RESULTS: Bootstrapped quantile regression analysis showed that being a dystonia patient compared to a healthy control significantly explains the methylation level at two CpG sites (CpG 24: pseudo-R 2 = 0.05, p = 0.04, CpG 32: pseudo-R 2 = 0.14, p = 0.03). Subgroup analysis revealed that being a DRD patient significantly explained a part of the variance of methylation levels at two CpG sites (CpG 21: pseudo-R 2 = 0.03, p = 0.00, CpG 24: pseudo-R 2 = 0.06, p = 0.03). Regression analysis showed that methylation level at CpG 38 significantly explained a small proportion of the variance of severity score for anxiety (R 2 = 0.07, p = 0.04) and having a diagnosis of depression (Nagelkerke R 2: 0.11, p = 0.00). Genotype of the 5-HTTLPR polymorphism had no additional effect on these associations. CONCLUSIONS: This study showed an association between percentage of methylation at several specific sites of the promoter region of SLCA64 and (dopa-responsive) dystonia patients compared to healthy controls. Furthermore, methylation levels were associated with severity of anxiety and presence of a depressive disorder in the dystonia group. This study suggests alterations in the serotonergic metabolism in dystonia patients, and its relation with the non-motor symptoms.
650 7a MEDICIN OCH HÄLSOVETENSKAPx Klinisk medicinx Psykiatri0 (SwePub)302152 hsv//swe
650 7a MEDICAL AND HEALTH SCIENCESx Clinical Medicinex Psychiatry0 (SwePub)302152 hsv//eng
653 a Humans
653 a DNA Methylation
653 a Serotonin
653 a Dystonia/genetics
653 a Dystonic Disorders/complications
653 a Serotonin Plasma Membrane Transport Proteins/genetics
7001 a Plösch, Torstenu University of Groningen4 aut
7001 a Smit, Marenkau University of Groningen4 aut
7001 a Hof, Ingrid Hu University of Groningen4 aut
7001 a Verkaik-Schakel, Rikst Nynkeu University of Groningen4 aut
7001 a Tijssen, Marina A Ju University of Groningen4 aut
7001 a de Koning, Tom Ju Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine,University Medical Center Groningen4 aut0 (Swepub:lu)to2856jd
7001 a Niezen-Koning, Klary Eu University Medical Center Groningen4 aut
7102 a University of Groningenb Pediatrik, Lund4 org
7730 t Clinical Epigeneticsd : Springer Science and Business Media LLCg 14, s. 1-10q 14<1-10x 1868-7075x 1868-7083
8564 u http://dx.doi.org/10.1186/s13148-022-01384-7x freey FULLTEXT
8564 8u https://lup.lub.lu.se/record/feb17e8b-3290-4e0c-a5f2-c75f6e6f345d
8564 8u https://doi.org/10.1186/s13148-022-01384-7

Hitta via bibliotek

Till lärosätets databas

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Stäng

Kopiera och spara länken för att återkomma till aktuell vy