Evidence map›Paper›PMID 40044661›Full record

ArticleNature communications2025

Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1.

Preeti Kumari, Lauren M Sullivan, Zhaozhi Li, E Parker Conquest, Elizabeth Cornforth, Rojashree Jayakumar, Ningyan Hu, J Alexander Sizemore, Brigham B McKee, Robert R Kitchen and 13 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Nature communications, 2025. 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. 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

23 authors.

Preeti KumariDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Lauren M SullivanDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Zhaozhi LiDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
E Parker ConquestDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Elizabeth CornforthSchool of Health and Rehabilitation Sciences, Massachusetts General Hospital Institute of Health Professions, Boston, MA, USA.
Rojashree JayakumarDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Ningyan HuDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0003-4472-1945
J Alexander SizemoreDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0000-0002-4417-5908
Brigham B McKeeDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.ORCID http://orcid.org/0009-0009-6360-2520
Robert R KitchenCardiovascular Research Center, Department of Medicine, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Paloma González-PérezDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA.
Constance LinvilleDepartment of Neurology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Karla CastroDepartment of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.
Hilda GutierrezDepartment of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.
Soleil SamaanDepartment of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.
Elise L TownsendSchool of Health and Rehabilitation Sciences, Massachusetts General Hospital Institute of Health Professions, Boston, MA, USA.
Basil T DarrasDepartment of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.
Seward B RutkoveDepartment of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA.
Susan T IannacconeDepartment of Pediatrics, University of Texas Southwestern, Dallas, TX, USA.ORCID http://orcid.org/0000-0003-0851-3516
Paula R ClemensDepartment of Neurology, University of Pittsburgh, Pittsburgh, PA, USA.ORCID http://orcid.org/0000-0002-0652-6703
Araya PuwanantDepartment of Neurology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.
Sudeshna DasDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. sdas5@mgh.harvard.edu.ORCID http://orcid.org/0000-0002-9486-6811
Thurman M WheelerDepartment of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA. twheeler1@mgh.harvard.edu.

Funding

Senator Paul D. Wellstone Muscular Dystrophy Specialized Research CenterP50NS048843 · NINDS · UNIVERSITY OF ROCHESTER · PI THORNTON, CHARLES A · 2018 to 2022
$7.1M
Extracellular RNA biomarkers of myotonic dystrophy type 1R61NS117210 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI WHEELER, THURMAN M · 2021 to 2021
$2.1M
Brain Structure and Clinical Endpoints in Myotonic Dystrophy Type 2-K23NS125110 · NINDS · WAKE FOREST UNIVERSITY HEALTH SCIENCES · PI Araya Puwanant · 2022 to 2026
$1.1M
Clinical and Non-Invasive Biomarkers of Myotonic DystrophyK23NS118048 · NINDS · MASSACHUSETTS GENERAL HOSPITAL · PI Paloma Gonzalez-Perez · 2023 to 2026
$804k
Muscular Dystrophy Association (Muscular Dystrophy Association Inc.) 1072634NINDS NIH HHS K23 NS118048NINDS NIH HHS K23 NS125110NINDS NIH HHS P50 NS048843NINDS NIH HHS R61 NS117210U.S. Department of Defense (United States Department of Defense) W81XWH-19-1-0392U.S. Department of Defense (United States Department of Defense) W81XWH-20-1-0293U.S. Department of Health & Human Services | NIH | National Institute of Neurological Disorders and Stroke (NINDS) R61NS117210
6 · The paper itself

Abstract

Chronic kidney disease (CKD) and the genetic disorder myotonic dystrophy type 1 (DM1) each are associated with progressive muscle wasting, whole-body insulin resistance, and impaired systemic metabolism. However, CKD is undocumented in DM1 and the molecular pathogenesis driving DM1 is unknown to involve the kidney. Here we use urinary extracellular vesicles (EVs), RNA sequencing, droplet digital PCR, and predictive modeling to identify downregulation of metabolism transcripts Phosphoenolpyruvate carboxykinase-1, 4-Hydroxyphenylpyruvate dioxygenase, Dihydropyrimidinase, Glutathione S-transferase alpha-1, Aminoacylase-1, and Electron transfer flavoprotein B in DM1. Expression of these genes localizes to the kidney, especially the proximal tubule, and correlates with muscle strength and function. In DM1 autopsy kidney tissue, characteristic ribonuclear inclusions are evident throughout the nephron. We show that urinary organic acids and acylglycines are elevated in DM1, and correspond to enzyme deficits of downregulated genes. Our study identifies a previously unrecognized site of DM1 molecular pathogenesis and highlights the potential of urinary EVs as biomarkers of renal and metabolic disturbance in these individuals.

Indexed as

Extracellular VesiclesKidneyMyotonic DystrophyRenal Insufficiency, ChronicAdultAgedBiomarkersFemaleHumansMaleMiddle AgedBiomarkers

Identifiers

PMID40044661
PMCPMC11882899

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.