Journal article
Unraveling neuronal and metabolic alterations in neurofibromatosis type 1
Journal of neurodevelopmental disorders, Vol.16(1), 49
08/31/2024
DOI: 10.1186/s11689-024-09565-6
PMCID: PMC11365184
PMID: 39217323
Abstract
Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features.Neurofibromatosis type 1 (OMIM 162200) affects ~ 1 in 3,000 individuals worldwide and is one of the most common monogenetic neurogenetic disorders that impacts brain function. The disorder affects various organ systems, including the central nervous system, resulting in a spectrum of clinical manifestations. Significant progress has been made in understanding the disorder's pathophysiology, yet gaps persist in understanding how the complex signaling and systemic interactions affect the disorder. Two features of the disorder are alterations in neuronal function and metabolism, and emerging evidence suggests a potential relationship between them. This review summarizes neurofibromatosis type 1 features and recent research findings on disease mechanisms, with an emphasis on neuronal and metabolic features.
Details
- Title: Subtitle
- Unraveling neuronal and metabolic alterations in neurofibromatosis type 1
- Creators
- Valentina Botero - University of IowaSeth M Tomchik - University of Iowa
- Resource Type
- Journal article
- Publication Details
- Journal of neurodevelopmental disorders, Vol.16(1), 49
- Publisher
- BMC
- DOI
- 10.1186/s11689-024-09565-6
- PMID
- 39217323
- PMCID
- PMC11365184
- ISSN
- 1866-1955
- eISSN
- 1866-1955
- Grant note
We thank Drs. Damon Page, Ronald L. Davis, Baoji Xu, and David Gutmann for advice and feedback during Dr. Botero's dissertation research, and Lisa Ringen, Linda Buckner, Melissa Benilous, and Katherine O'Brien for administrative support.
- Language
- English
- Date published
- 08/31/2024
- Academic Unit
- Stead Family Department of Pediatrics; Iowa Neuroscience Institute; Neuroscience and Pharmacology
- Record Identifier
- 9984701755002771
Metrics
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