Nerve growth factor and brain-derived neurotrophic factor in human paediatric hemimegalencephaly

A Antonelli1, A Chiaretti, T Amendola

  • 1Institute of Neurobiology and Molecular Medicine, Neurobiology Section CNR, Rome, Italy.

Neuropediatrics
|March 6, 2004
PubMed

Insights

Paediatric hemimegalencephaly (HME) involves brain enlargement and seizures. Studies show elevated nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) in HME infants, suggesting a role in this rare neurological disorder.

Area of Science:

  • Neuroscience
  • Developmental Biology
  • Pediatric Neurology

Background:

  • Paediatric hemimegalencephaly (HME) is a congenital brain malformation.
  • HME is characterized by unilateral cerebral hemisphere enlargement, intractable seizures, and intellectual disability.
  • Neuropathological findings include cortical thickening and disrupted lamination.

Purpose of the Study:

  • To investigate the role of neurotrophic factors in paediatric hemimegalencephaly (HME).
  • To examine the levels of nerve growth factor (NGF) and brain-derived neurotrophic factor (BDNF) in HME patients.
  • To explore potential associations between neurotrophic factors and HME pathogenesis.

Main Methods:

  • Analysis of cerebral tissue samples from infants diagnosed with HME.
  • Measurement of NGF and BDNF levels using biochemical assays.
  • Assessment of NGF-receptor expression and choline acetyltransferase (ChAT) immunoreactivity in cortical and vascular tissues.

Main Results:

  • Elevated cerebral tissue levels of NGF and BDNF were observed in infants with HME.
  • Abnormal NGF-receptor expression was noted in the subcortical blood vessels of HME patients.
  • A significant reduction in cortical choline acetyltransferase (ChAT) immunoreactivity suggests dysregulated NGF activity.

Conclusions:

  • Increased NGF and BDNF levels may play a role in the pathogenesis of paediatric hemimegalencephaly (HME).
  • Aberrant NGF signaling, indicated by receptor expression and ChAT levels, could contribute to HME development.
  • These findings highlight potential therapeutic targets for HME, focusing on neurotrophic factor pathways.