Evidence map›Paper›PMID 36497038›Full record

ArticleCells2022

Evidences for Mutant Huntingtin Inducing Musculoskeletal and Brain Growth Impairments via Disturbing Testosterone Biosynthesis in Male Huntington Disease Animals.

Libo Yu-Taeger, Arianna Novati, Jonasz Jeremiasz Weber, Elisabeth Singer-Mikosch, Ann-Sophie Pabst, Fubo Cheng, Carsten Saft, Jennifer Koenig, Gisa Ellrichmann, Taneli Heikkinen and 3 more

Open access · goldAbstract read
In one paragraph

Article in Cells, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 42% 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

2 citing papers in PubMed, 6 citations in OpenAlex.

  1. Prevention of ubiquitination at K6 and K9 in mutant huntingtin exacerbates disease pathology in a knock-in mouse model.Proceedings of the National Academy of Sciences of the United States of America · 2026
    Article
  2. Article
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

13 authors at 3 institutions in 3 countries.

Libo Yu-TaegerDepartment of Human Genetics, Faculty of Medicine, Ruhr University Bochum, 44801 Bochum, Germany.
Arianna NovatiDepartment of Human Genetics, Faculty of Medicine, Ruhr University Bochum, 44801 Bochum, Germany.
Jonasz Jeremiasz WeberDepartment of Human Genetics, Faculty of Medicine, Ruhr University Bochum, 44801 Bochum, Germany.ORCID 0000-0003-3758-1569
Elisabeth Singer-MikoschDepartment of Human Genetics, Faculty of Medicine, Ruhr University Bochum, 44801 Bochum, Germany.ORCID 0000-0001-6669-9676
Ann-Sophie PabstInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
Fubo ChengInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
Carsten SaftDepartment of Neurology, Ruhr University Bochum, 44801 Bochum, Germany.
Jennifer KoenigDepartment of Neurology, Ruhr University Bochum, 44801 Bochum, Germany.
Gisa EllrichmannDepartment of Neurology, Ruhr University Bochum, 44801 Bochum, Germany.
Taneli HeikkinenCharles River Discovery Services, 70210 Kuopio, Finland.
Mahmoud A PouladiDepartment of Physiology, Yong Loo Lin School of Medicine, National University of Singapore, Singapore 117597, Singapore.
Olaf RiessInstitute of Medical Genetics and Applied Genomics, University of Tuebingen, 72076 Tuebingen, Germany.
Huu Phuc NguyenDepartment of Human Genetics, Faculty of Medicine, Ruhr University Bochum, 44801 Bochum, Germany.ORCID 0000-0001-6139-788X
University of Tübingen · DERuhr University Bochum · DEUniversity of British Columbia · CA

Funding

E-Rare Research Programme ERA-NET E-Rare 3 "TreatPolyQ" no. 01GM1804European Union´s Horizon 2020 research and innovation programme No 643417
6 · The paper itself

Abstract

Body weight (BW) loss and reduced body mass index (BMI) are the most common peripheral alterations in Huntington disease (HD) and have been found in HD mutation carriers and HD animal models before the manifestation of neurological symptoms. This suggests that, at least in the early disease stage, these changes could be due to abnormal tissue growth rather than tissue atrophy. Moreover, BW and BMI are reported to be more affected in males than females in HD animal models and patients. Here, we confirmed sex-dependent growth alterations in the BACHD rat model for HD and investigated the associated contributing factors. Our results showed growth abnormalities along with decreased plasma testosterone and insulin-like growth factor 1 (IGF-1) levels only in males. Moreover, we demonstrated correlations between growth parameters, IGF-1, and testosterone. Our analyses further revealed an aberrant transcription of testosterone biosynthesis-related genes in the testes of BACHD rats with undisturbed luteinizing hormone (LH)/cAMP/PKA signaling, which plays a key role in regulating the transcription process of some of these genes. In line with the findings in BACHD rats, analyses in the R6/2 mouse model of HD showed similar results. Our findings support the view that mutant huntingtin may induce abnormal growth in males via the dysregulation of gene transcription in the testis, which in turn can affect testosterone biosynthesis.

Indexed as

Huntingtin ProteinHuntington DiseaseTestosteroneAnimalsBrainDisease Models, AnimalFemaleInsulin-Like Growth Factor IMaleMiceRatsHuntingtin ProteinInsulin-Like Growth Factor ITestosteroneBACHD ratsbrain growthHuntington diseasemusculoskeletal growthR6/2 micesex-differencetestosterone synthesistranscription dysregulation

Identifiers

PMID36497038
PMCPMC9737670
OpenAlexW4310212450

What Socratic holds

Textmetadata
LicenceCC BY
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.