Applying mouse embryo model for developmental pathology of hereditary spastic paraplegia
- Title
- Applying mouse embryo model for developmental pathology of hereditary spastic paraplegia
- Authors
- BAEK, SEUNG TAE; 김동휘
- Date Issued
- 2020-11-16
- Publisher
- 한국뇌신경과학회
- Abstract
- Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous
neurodegeneration disease that shows progressive dying back of upper motor
neurons that consist corticospinal tract (CST). HSP has a wide age of
onset spectrum and onset at 0~5 occupy 11% of HSP cases. Regarding average
onset is 30.8 years old, these early onset HSP cases imply significant
developmental defects that are different with late-onset HSP cases. Thus we
were trying to broaden our understanding about developmental pathology
of early-onset HSP by mouse embryo study. Using in utero electroporation
(IUE), we could transfer human gene variants already known to cause
early-onset HSP, like SPG3a (ATL1) and SPG4 (SPAST) to the precursor of
upper motor neurons that are located in the layer V primary motor cortex.
These mouse embryo models suggest cell morphology of developmental
stage under HSP gene variants. Furthermore, it would suggest developing
defects of axon in HSP, including axon fasciculation and projection reported
to be critical in other motor neuron disease. We will further utilize this
approach to test novel variants found in early-onset HSP cases. This study
would reveal developmental pathologies underlying early-onset HSP caused
by novel genetic variants.
- URI
- https://oasis.postech.ac.kr/handle/2014.oak/109786
- Article Type
- Conference
- Citation
- KSBNS 2020, 2020-11-16
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