Lifespan in rodents with MYT1L heterozygous mutation

Abstract MYT1L syndrome is a newly recognized disorder characterized by intellectual disability, speech and motor delay, neuroendocrine disruptions, ADHD, and autism. In order to study this gene and its association with these phenotypes, our lab recently created a Myt1l heterozygous mutant mouse ins...

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Main Authors: Allyson Schreiber, Raylynn G. Swift, Leslie Wilson, Kristen L. Kroll, Joseph D. Dougherty, Susan E. Maloney
Format: Article
Language:English
Published: Nature Portfolio 2025-02-01
Series:Scientific Reports
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Online Access:https://doi.org/10.1038/s41598-025-88462-x
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author Allyson Schreiber
Raylynn G. Swift
Leslie Wilson
Kristen L. Kroll
Joseph D. Dougherty
Susan E. Maloney
author_facet Allyson Schreiber
Raylynn G. Swift
Leslie Wilson
Kristen L. Kroll
Joseph D. Dougherty
Susan E. Maloney
author_sort Allyson Schreiber
collection DOAJ
description Abstract MYT1L syndrome is a newly recognized disorder characterized by intellectual disability, speech and motor delay, neuroendocrine disruptions, ADHD, and autism. In order to study this gene and its association with these phenotypes, our lab recently created a Myt1l heterozygous mutant mouse inspired by a clinically relevant mutation. This model recapitulates several of the physical and neurologic abnormalities seen in humans with MYT1L syndrome, such as weight gain, microcephaly, and behavioral disruptions. The majority of patients with this syndrome are young, and little is known about the impact of age on health and mortality in these patients. Using a Myt1l mutant mouse, we examined the impact of Myt1l mutation on body weights, lifespan, and histopathology findings of mice at the end of life. This cohort of heterozygous mice demonstrated increased body weight across the lifespan, however there was no significant difference in lifespan, apparent cause of death, or end of life histopathological findings between Myt1l heterozygous and wildtype mice. These findings suggest while Myt1l heterozygous mutation may influence overall brain development, it does not strongly impact other organ systems in the body over time.
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spelling doaj-art-e529f8fa036348d09fd902b3d8e5ec442025-08-20T03:00:59ZengNature PortfolioScientific Reports2045-23222025-02-011511810.1038/s41598-025-88462-xLifespan in rodents with MYT1L heterozygous mutationAllyson Schreiber0Raylynn G. Swift1Leslie Wilson2Kristen L. Kroll3Joseph D. Dougherty4Susan E. Maloney5Department of Pediatrics, Washington University School of MedicineDepartment of Psychiatry, Washington University School of MedicineDivision of Comparative Medicine, Washington University School of MedicineDepartment of Developmental Biology, Washington University School of MedicineDepartment of Psychiatry, Washington University School of MedicineDepartment of Psychiatry, Washington University School of MedicineAbstract MYT1L syndrome is a newly recognized disorder characterized by intellectual disability, speech and motor delay, neuroendocrine disruptions, ADHD, and autism. In order to study this gene and its association with these phenotypes, our lab recently created a Myt1l heterozygous mutant mouse inspired by a clinically relevant mutation. This model recapitulates several of the physical and neurologic abnormalities seen in humans with MYT1L syndrome, such as weight gain, microcephaly, and behavioral disruptions. The majority of patients with this syndrome are young, and little is known about the impact of age on health and mortality in these patients. Using a Myt1l mutant mouse, we examined the impact of Myt1l mutation on body weights, lifespan, and histopathology findings of mice at the end of life. This cohort of heterozygous mice demonstrated increased body weight across the lifespan, however there was no significant difference in lifespan, apparent cause of death, or end of life histopathological findings between Myt1l heterozygous and wildtype mice. These findings suggest while Myt1l heterozygous mutation may influence overall brain development, it does not strongly impact other organ systems in the body over time.https://doi.org/10.1038/s41598-025-88462-xLifespanObesityMYT1L syndromeNeurodevelopmental disorders
spellingShingle Allyson Schreiber
Raylynn G. Swift
Leslie Wilson
Kristen L. Kroll
Joseph D. Dougherty
Susan E. Maloney
Lifespan in rodents with MYT1L heterozygous mutation
Scientific Reports
Lifespan
Obesity
MYT1L syndrome
Neurodevelopmental disorders
title Lifespan in rodents with MYT1L heterozygous mutation
title_full Lifespan in rodents with MYT1L heterozygous mutation
title_fullStr Lifespan in rodents with MYT1L heterozygous mutation
title_full_unstemmed Lifespan in rodents with MYT1L heterozygous mutation
title_short Lifespan in rodents with MYT1L heterozygous mutation
title_sort lifespan in rodents with myt1l heterozygous mutation
topic Lifespan
Obesity
MYT1L syndrome
Neurodevelopmental disorders
url https://doi.org/10.1038/s41598-025-88462-x
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AT kristenlkroll lifespaninrodentswithmyt1lheterozygousmutation
AT josephddougherty lifespaninrodentswithmyt1lheterozygousmutation
AT susanemaloney lifespaninrodentswithmyt1lheterozygousmutation