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Potential therapeutic approaches for Angelman syndrome
Xiaoning Bi1, Jiandong Sun1, Angela X Ji1
1a Department of Basic Medical Sciences, COMP , Western University of Health Sciences , Pomona , CA , USA.
Expert Opinion on Therapeutic Targets
|November 13, 2015
Summary
Angelman syndrome (AS) is a neurodevelopmental disorder. Targeting UBE3A imprinting and downstream signaling pathways offers promising therapeutic strategies for AS, addressing the root cause and cellular defects.
Area of Science:
- Neuroscience
- Genetics
- Developmental Biology
Background:
- Angelman syndrome (AS) is a neurodevelopmental disorder stemming from the deficiency of the maternally inherited UBE3A gene.
- Current treatments for AS are lacking, necessitating further research into UBE3A's central nervous system (CNS) functions.
Purpose of the Study:
- To review current literature on Angelman syndrome, focusing on genetic classifications, UBE3A imprinting, CNS signaling alterations, and therapeutic avenues.
- To explore potential common molecular links between AS and autism spectrum disorder (ASD), frequently observed comorbidities.
Main Methods:
- Literature review encompassing genetic classifications of AS.
- Analysis of recent findings on UBE3A imprinting regulation.
- Examination of cell signaling alterations in brain regions affected by AS.
- Evaluation of potential therapeutic approaches for AS.
Main Results:
- Understanding UBE3A imprinting allows for paternal UBE3A expression, targeting the syndrome's origin.
- Activating paternal UBE3A post-development may not fully correct established CNS defects in AS models.
- Targeting aberrant downstream cell signaling pathways shows promise in preclinical AS research.
Conclusions:
- Combined strategies involving paternal UBE3A re-expression and targeting abnormal signaling pathways may offer enhanced therapeutic benefits for Angelman syndrome.
- Addressing both the genetic root and downstream cellular consequences is crucial for effective AS treatment.
- Further research is needed to optimize combined therapeutic approaches for Angelman syndrome.
