Evidence map›Paper›PMID 41037592›Full record

ArticleHuman molecular genetics2025

Sleep in a mouse model of fragile X syndrome is resistant to metabolic manipulations.

Mariela Lopez Valencia, Ricardo A Velázquez Aponte, Joseph A Baur, Thomas A Jongens, Amita Sehgal

Abstract read
In one paragraph

Article in Human molecular genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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1 · What the graph read from it

What it found

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2 · The registry

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3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

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4 · The record

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5 · Who and what money

Authors and funding

5 authors.

Mariela Lopez ValenciaChronobiology and Sleep Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.
Ricardo A Velázquez AponteDepartment of Physiology and Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.
Joseph A BaurDepartment of Physiology and Institute for Diabetes, Obesity and Metabolism, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.
Thomas A JongensDepartment of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.
Amita SehgalChronobiology and Sleep Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA 19104, United States.ORCID 0000-0001-7354-9641

Funding

VIRAL VECTOR COREP30DK019525 · NIDDK · UNIVERSITY OF PENNSYLVANIA · PI DOUGLAS J EPSTEIN · 1986 to 2026
$48.3M
Indirect calorimetry cages equipped for glucose and blood pressure telemetryS10OD025098 · OD · UNIVERSITY OF PENNSYLVANIA · PI BAUR, JOSEPH A. · 2019 to 2019
$750k
NIDDK NIH HHS P30 DK019525NIH HHS S10 OD025098
6 · The paper itself

Abstract

Fragile X Syndrome is the most prevalent known genetic cause of intellectual disability (ID), affecting around 1 in 4 000 individuals, and is also highly associated with autism spectrum disorder (ASD). Humans with the disorder and animal models display sleep and metabolic abnormalities. Given growing evidence of links between sleep and metabolism, we sought to determine if metabolic abnormalities underlie sleep deficits in mice lacking the Fragile X messenger ribonucleoprotein 1 (FMR1) gene. We found that metformin, a drug that targets metabolic pathways and has been shown to alleviate other symptoms in FXS, did not rescue sleep in mutant mice. Instead, metformin enhanced activity of Fmr1 knockout (KO) mice. As a way of exaggerating possible metabolic phenotypes, we treated mice with a high fat diet (HFD) and found that although this disrupted the sleep pattern in controls, it did not impact the sleep phenotype in Fmr1 KOs. Increased sleep during the dark phase, caused by HFD in wild type animals, was alleviated by metformin treatment. Metformin also decreased weight gain of wild type animals on a HFD, but the effect was delayed in Fmr1 KO mice. Fmr1 KO mice with or without metformin treatment displayed hyperphagia on a HFD, yet did not show higher weight gain than wild type. And, surprisingly, their glucose tolerance was equivalent to that of wild type mice on metformin. We suggest that Fmr1 KO mice are better able to metabolize fat and so are relatively resistant to its negative effects on sleep and metabolism.

Indexed as

Fragile X Messenger Ribonucleoprotein 1Fragile X SyndromeSleepAnimalsDiet, High-FatDisease Models, AnimalHumansMaleMetforminMiceMice, KnockoutWeight GainFmr1 protein, mouseFragile X Messenger Ribonucleoprotein 1MetforminDietFragile X SyndromeMetabolismSleep

Identifiers

PMID41037592
PMCPMC12581825

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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 OpenQuestion graph.