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Lipid Abnormalities in ASD and ASD-Associated Genetic Disorders and the Associated mTOR Pathway

Guest Editor:
Elaine Tierney, MD, PhD, Kennedy Krieger Institute, USA

Submission Status: Open   |   Submission Deadline: 15 March 2024


Lipids in Health and Disease is calling for submissions to our new Collection which will highlight lipid abnormalities identified in autism spectrum disorder (ASD) and ASD-associated genetic disorders, including Smith Lemli Opitz syndrome, Rett syndrome, CDKL5 syndrome, fragile X syndrome, tuberous sclerosis, neurofibromatosis types 1 and 2, Angelman syndrome, Down syndrome and PTEN hamartoma tumor syndrome and the relationship of ASD-associated genetic disorders to both lipids and to the mTOR pathway.

Image Credit: melita / stock.adobe.com

About the collection

It is estimated that worldwide about 1 in 100 children have autism spectrum disorder (ASD) and ASD has been associated with lipid abnormalities.  Genetic disorders that are associated with ASD, such as fragile X syndrome, have also been frequently identified as having lipid abnormalities and have also been frequently associated with the Mammalian target of rapamycin (mTOR) signaling pathway. The mTor pathway is a central regulator of lipid metabolism.

This Collection focuses on the link between genetic disorders associated with ASD and how these the genetic disorders’ DNA variants may lead to modification of the mTor pathway function and lipid abnormalities.

The Collection will cover the following:

• How the mTOR pathway regulates lipid metabolism and, conversely, lipid levels regulate the mTOR pathway.
• The relationship of lipids to the central nervous system.
• The role of mTOR in the central nervous system.
• The relationship of brain-derived central nervous system growth factor factors, including brain-derived neurotrophic factor (BDNF) and lipid levels.
• The role of BDNF as a potent activator of mTOR and the effect of mTOR pathway changes on synaptic plasticity.
• Lipid abnormalities and altered mTOR pathway function in individuals who have ASD but no identified genetic disorder.
• ASD animal models with lipid alterations.
• ASD animal models with mTOR pathway alterations.
• The lipid abnormalities observed in individuals with Smith-Lemli-Opitz syndrome, Rett syndrome, CDKL5 syndrome, fragile X syndrome, tuberous sclerosis, neurofibromatosis, Angelman, Down syndrome and PTEN hamartoma tumor syndrome and their corresponding animal models.
• The mTOR pathway involvement in individuals with Smith-Lemli-Opitz syndrome, Rett syndrome, CDKL5 syndrome, fragile X syndrome, tuberous sclerosis, neurofibromatosis, Angelman, Down syndrome and PTEN hamartoma tumor syndrome and their corresponding animal models.
• The effect of mTOR inhibitor medications on lipid levels and autism-related deficits in individuals with genetic disorders associated with ASD.

There are currently no articles in this collection.

Submission Guidelines

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Before submitting your manuscript, please ensure you have read our submission guidelines. Articles for this Collection should be submitted via our submission system, Snapp. During the submission process you will be asked whether you are submitting to a Collection, please select "Lipid Abnormalities in ASD and ASD-Associated Genetic Disorders and the Associated mTOR Pathway" from the dropdown menu.

Articles will undergo the journal’s standard peer-review process and are subject to all of the journal’s standard policies. Articles will be added to the Collection as they are published.

The Guest Editors have no competing interests with the submissions which they handle through the peer review process. The peer review of any submissions for which the Guest Editors have competing interests is handled by another Editorial Board Member who has no competing interests.