Evidence map›Paper›PMID 41928955›Full record

ArticlebioRxiv : the preprint server for biology2026

Cardiac defects in spinal muscular atrophy and the role of SMN in cardiomyocyte homeostasis.

Reid Garner, Leillani L Ha, Flavia C Nery, Rebecca G Spellman, Lucia Chehade, Eric J Eichelberger, Salomé Da Silva Duarte Lepez, Alec J Johnstone, Rashmi Kothary, Kathryn J Swoboda and 1 more

Abstract readPreprint
PubMed Full text at PMC Publisher
In one paragraph

Article in bioRxiv : the preprint server for biology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

11 authors.

Reid GarnerCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Leillani L HaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0003-4478-660X
Flavia C NeryCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Rebecca G SpellmanCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Lucia ChehadeRegenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.
Eric J EichelbergerCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Salomé Da Silva Duarte LepezCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Alec J JohnstoneCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Rashmi KotharyRegenerative Medicine Program, Ottawa Hospital Research Institute, Ottawa, ON, Canada.ORCID 0000-0002-9239-7310
Kathryn J SwobodaCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
Christiano R R AlvesCenter for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.ORCID 0000-0002-2646-9689

Funding

Therapeutic Opportunities in Spinal Muscular AtrophyR01HD054599 · NICHD · UNIVERSITY OF UTAH · PI SWOBODA, KATHRYN J. · 2007 to 2011
$1.5M
Development of in Vivo Base Editing as a Genetic Treatment for Spinal Muscular AtrophyK01NS134784 · NINDS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI Christiano Alves · 2024 to 2026
$726k
Neural and non-neural contributions to phenotype in human SMA type 1R21NS108015 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI SWOBODA, KATHRYN J. · 2018 to 2019
$463k
NICHD NIH HHS R01 HD054599NINDS NIH HHS K01 NS134784NINDS NIH HHS R21 NS108015
6 · The paper itself

Abstract

Spinal muscular atrophy (SMA) is characterized by motor neuron degeneration caused by deficiency of the survival motor neuron (SMN) protein. However, evidence increasingly supports broader systemic involvement. This study aimed to examine cardiac pathology in SMA patients and to investigate how reduced SMN levels impact cardiomyocyte homeostasis. We analyzed postmortem data from 14 SMA type I patients from the pretreatment era, integrating gross anatomical, histopathological, and clinical findings. To investigate cardiomyocyte-intrinsic effects of SMN deficiency, healthy human cardiomyocytes were subjected to SMN knockdown and assessed using metabolic assays and transcriptomic profiling. Key findings were further investigated in vivo using the

Indexed as

cardiac pathologyheartmetabolismneuromuscular diseasesSMA

Identifiers

PMID41928955
PMCPMC13041816

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
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.