Evidence mapPaperPMID 41212113Full record

ArticleCirculation. Genomic and precision medicine2026

Aberrant Splicing of

Oluwafolajimi Adesanya, Pouya Nabie, Alexandra Betancourt, Auinash Kalsotra

Abstract read
In one paragraph

Article in Circulation. Genomic and precision medicine, 2026. 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
field-weighted citation impact
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. 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

4 authors.

Oluwafolajimi AdesanyaDepartment of Biochemistry (O.A., P.N., A.B., A.K.), University of Illinois, Urbana-Champaign, IL, USA.ORCID 0000-0002-8716-7457
Pouya NabieDepartment of Biochemistry (O.A., P.N., A.B., A.K.), University of Illinois, Urbana-Champaign, IL, USA.ORCID 0009-0002-6353-0319
Alexandra BetancourtDepartment of Biochemistry (O.A., P.N., A.B., A.K.), University of Illinois, Urbana-Champaign, IL, USA.
Auinash KalsotraDepartment of Biochemistry (O.A., P.N., A.B., A.K.), University of Illinois, Urbana-Champaign, IL, USA.ORCID 0000-0002-1011-0006

Funding

Post-transcriptional mechanisms of gene regulation in cardiac cell growth and developmentR01HL126845 · NHLBI · UNIVERSITY OF ILLINOIS AT URBANA-CHAMPAIGN · PI Auinash Kalsotra · 2023 to 2023
$386k
NHLBI NIH HHS R01 HL126845
6 · The paper itself

Abstract

backgroundMyotonic dystrophy type 1 (DM1) is caused by a (CTG)n trinucleotide repeat expansion in the 3'UTR of the

methodsUsing an inducible, heart-specific DM1 mouse model, we performed extracellular flux analyses, measured total ATP and NAD(H) concentrations, and performed immunofluorescence staining and transmission electron microscopy to characterize DM1-induced cardiac bioenergetics and mitochondrial structural defects. We analyzed eCLIP-Seq data to identify mitochondria-related missplicing events, which we validated in human and mouse DM1 heart tissues. Finally, we used antisense oligonucleotides to replicate these events and to test the recapitulation of DM1-like bioenergetic and structural defects in vitro.

resultsDM1 induced a multistate decrease in oxygen consumption rate with a corresponding reduction in ATP and NAD(H) concentrations, indicating impaired oxidative phosphorylation in DM1-afflicted mouse hearts. We also found significant cardiac mitochondria fragmentation, which correlated with the missplicing of transcripts encoding mitochondria fission factor (

conclusionsTogether, these findings reveal that expanded (CUG)n RNA toxicity in DM1 disrupts cardiac bioenergetics through the missplicing of critical mitochondrial fission transcripts. These misspliced transcripts represent potential therapeutic targets for improving mitochondrial function and cardiac symptoms of DM1.

Indexed as

Alternative SplicingDynaminsEnergy MetabolismMitochondria, HeartMitochondrial DynamicsMyocardiumMyotonic DystrophyAnimalsDisease Models, AnimalHumansMaleMiceMyocytes, CardiacMyotonin-Protein KinaseDynaminsMyotonin-Protein Kinasealternative splicingantisense oligonucleotidescardiomyocytesdynamin-related protein 1mitochondrial dynamicsmyotonic dystrophyoxygen consumption

Identifiers

PMID41212113
PMCPMC12820943

What Socratic holds

Textmetadata
LicenceTDM
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.