Modeling Hereditary spastic paraplegia in animal to reveal developmental pathology
- Title
- Modeling Hereditary spastic paraplegia in animal to reveal developmental pathology
- Authors
- BAEK, SEUNG TAE; 김동휘
- Date Issued
- 2020-10-05
- Publisher
- 한국분자세포생물학회
- Abstract
- Hereditary spastic paraplegia (HSP) is a genetically heterogeneous neurodegenerative
disorder with axon-length dependent dying-back of upper motor
neuron in the corticospinal tract (CST). The average age of onset is 30.8 years
old, but 11% of cases have been reported to be early-onset at age 0-5, suggesting
developmental defects. To study developmental pathologies of early-onset
HSP, we have developed animal models using in utero electroporation (IUE) by
selectively introduced genetic variants found in human HSP cases to primary
motor cortex targeting layer V pyramidal neurons, precursors of CST neurons.
We were able to characterize morphological and cellular defects that might be
relevant to early-onset HSP. Using previously reported early-onset HSP gene,
including SPG3a (ATL1) and SPG4 (SPAST) as well as late-onset HSP, 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/109789
- Article Type
- Conference
- Citation
- KSMCB 2020, 2020-10-05
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