Evidence map›Paper›PMID 37684514›Full record

ArticleNeuromolecular medicine2023

Dysregulated COMT Expression in Fragile X Syndrome.

Kagistia Hana Utami, Nur Amirah Binte Muhammed Yusof, Marta Garcia-Miralles, Niels Henning Skotte, Srikanth Nama, Prabha Sampath, Sarah R Langley, Mahmoud A Pouladi

Open access · greenAbstract read
PubMed Publisher
In one paragraph

Article in Neuromolecular medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.3field-weighted citation impact, top 29% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. Review
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 6 institutions in 5 countries.

Kagistia Hana UtamiTranslational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.
Nur Amirah Binte Muhammed YusofTranslational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.
Marta Garcia-MirallesTranslational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.
Niels Henning SkotteProteomics Program, Novo Nordisk Foundation Center for Protein Research, Faculty of Health Sciences, University of Copenhagen, 2200, Copenhagen, Denmark.
Srikanth NamaInstitute of Medical Biology, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore.
Prabha SampathAgency for Science, Technology and Research, Genome Institute of Singapore, 60 Biopolis Street, Genome, Singapore, 138672, Singapore.
Sarah R LangleyLee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.
Mahmoud A PouladiTranslational Laboratory in Genetic Medicine, Agency for Science, Technology and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5, Singapore, 138648, Singapore. mahmoud.pouladi@ubc.ca.
Agency for Science, Technology and Research · SGBC Children's Hospital · CAGenome Institute of Singapore · SGNanyang Technological University · SGNovo Nordisk Foundation · DKUniversity of Freiburg · DE

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Transcriptional and proteomics analyses in human fragile X syndrome (FXS) neurons identified markedly reduced expression of COMT, a key enzyme involved in the metabolism of catecholamines, including dopamine, epinephrine and norepinephrine. FXS is the most common genetic cause of intellectual disability and autism spectrum disorders. COMT encodes for catechol-o-methyltransferase and its association with neuropsychiatric disorders and cognitive function has been extensively studied. We observed a significantly reduced level of COMT in in FXS human neural progenitors and neurons, as well as hippocampal neurons from Fmr1 null mice. We show that deficits in COMT were associated with an altered response in an assay of dopaminergic activity in Fmr1 null mice. These findings demonstrate that loss of FMRP downregulates COMT expression and affects dopamine signaling in FXS, and supports the notion that targeting catecholamine metabolism may be useful in regulating certain neuropsychiatric aspects of FXS.

Indexed as

Catechol O-MethyltransferaseFragile X SyndromeAnimalsDopamineFragile X Messenger Ribonucleoprotein 1HumansMiceMice, KnockoutNeuronsCatechol O-MethyltransferaseCOMT protein, humanCOMT protein, mouseDopamineFmr1 protein, mouseFragile X Messenger Ribonucleoprotein 1COMTFragile X syndromeIsogenic stem cell modelNeuronsProteomicsRNAseq

Identifiers

PMID37684514
OpenAlexW4386537845

What Socratic holds

Textmetadata
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.