Comparative profiling of white matter development in the human and mouse brain reveals volumetric deficits and delayed myelination in Angelman syndrome
This study reveals WM deficits as a hallmark in children with AS, demonstrating for the first time that these deficits are already apparent at 1 year of age. Parallel studies in a mouse model of AS show these deficits occur alongside the delayed onset of myelination, which results from the loss of neuronal (but not glial) UBE3A, though the causal relationship between these phenotypes remains to be determined. These findings emphasize the potential of WM as both a therapeutic target for interventions and a valuable biomarker for tracking the progression of AS and the effectiveness of potential treatments.
Authors
- A Burette (ORCID: https://orcid.org/0000-0002-8926-8606)
- Li‐Ming Hsu (ORCID: https://orcid.org/0000-0002-9296-344X)
- Mark D. Shen (ORCID: https://orcid.org/0000-0002-1190-7981)
- Sung-Ho Lee (ORCID: https://orcid.org/0000-0001-5292-0747)
- Audrey L. Smith (ORCID: https://orcid.org/0000-0001-5096-5351)
- Benjamin D. Philpot (ORCID: https://orcid.org/0000-0003-2746-9143)
- Heather C. Hazlett (ORCID: https://orcid.org/0000-0001-9166-1434)
- Martin Styner (ORCID: https://orcid.org/0000-0002-8747-5118)
- Yen‐Yu Ian Shih (ORCID: https://orcid.org/0000-0001-6529-911X)
- Siddhi Ozarkar
- Ridthi Kartik Rekha Patel
- Tasmai Vulli
Institutions
- University of North Carolina at Chapel Hill (US)
- University of North Carolina Health Care (US)
- Imaging Center (US)
Publication Details
- Journal
- Molecular Autism
- Published
- 2024-12-26
- DOI
- https://doi.org/10.1186/s13229-024-00636-y
- Citations
- 4
- Primary Topic
- Genetic Syndromes and Imprinting
- Type
- article
- Field-Weighted Citation Impact
- 2.20
Funders
- Angelman Syndrome Foundation
- Simons Foundation Autism Research Initiative
- National Institutes of Health
- National Institute of Mental Health
- National Institute of Neurological Disorders and Stroke
- Eunice Kennedy Shriver National Institute of Child Health and Human Development