Characterisation of balloon cells in cortical dysplasia
Dr Francois Guillmot, National Institute for Medical Research
Description of Project:
The aim of this project is to develop a novel approach to investigating epilepsy in children. Epilepsy is one of the most common and disabling neurological disorders of childhood. Some children have severe complex forms of epilepsy that do not respond to drug treatment and these children often require surgical resection of parts of their brain to control their epilepsy. The commonest disease found in these children is known as 'focal cortical dysplasia' but little is known about how this disease develops. It is characterised by abnormalities of cell size and often contains a population of unique large cells known as balloon cells. Previous investigations of these cells have been limited as it has not been possible to isolate them or to modify them. In this project, we intend to isolate and characterise these cells in culture and hence to develop a method to investigate their biology and pathology. This would provide an important resource and methodology for further studies into how this disease develops.
Becherini, F. et al. The pattern of integrin expression by balloon cells distinguishes focal cortical dysplasia from cortical tubers. Neuropathology and Applied Neurobiology 32 , 226 (2006).
Yasin SA, Ali AM, Tata M, Picker SR, Anderson GW, Latimer-Bowman E, Nicholson
SL, Harkness W, Cross JH, Paine SM, Jacques TS. mTOR-dependent abnormalities in
autophagy characterize human malformations of cortical development: evidence from
focal cortical dysplasia and tuberous sclerosis. Acta Neuropathol. 2013
Aug;126(2):207-18. doi: 10.1007/s00401-013-1135-4. Epub 2013 Jun 2.
Lawson AR, Tatevossian RG, Phipps KP, Picker SR, Michalski A, Sheer D, Jacques
TS, Forshew T. RAF gene fusions are specific to pilocytic astrocytoma in a broad
paediatric brain tumour cohort. Acta Neuropathol. 2010 Aug;120(2):271-3. doi:
10.1007/s00401-010-0693-y. Epub 2010 May 9.
Yasin SA, Latak K, Becherini F, Ganapathi A, Miller K, Campos O, Picker SR,
Bier N, Smith M, Thom M, Anderson G, Helen Cross J, Harkness W, Harding B,
Jacques TS. Balloon cells in human cortical dysplasia and tuberous sclerosis:
isolation of a pathological progenitor-like cell. Acta Neuropathol. 2010
Jul;120(1):85-96. doi: 10.1007/s00401-010-0677-y. Epub 2010 Mar 30.