Human inherited neuropathies

Human inherited neuropathies

team-item

Head of unit

Alessandra Bolino

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Myelin is a multilamellar membrane, which provides electrical insulation around the axon and participates to bidirectional communication with neurons and the extracellular environment. Schwann cells are the myelinating cells in the peripheral nervous system (PNS), which are in a 1 to 1 relationship with the axon to be myelinated. These myelin-forming cells provide to axons trophic support, regulate axonal transport and physiology. On the contrary, axonal signals promote Schwann cell differentiation and myelination during development, control myelin maintenance and homeostasis in the adult and influence the remyelination capacity after injury. Given this strict functional relationship, a defect primarily arising in Schwann cells or in axons/neurons is affecting the physiology of the whole functional unit and provokes human diseases.

Research activity

Research in our laboratory follows a multidisciplinary approach including genetics, biochemistry and cell biology and seeks to:

  • identify new genes in human responsible for inherited peripheral neuropathies and lower motor neuron diseases;
  • elucidate how defects in these genes provoke human diseases;
  • clarify the molecular mechanisms that regulate membrane trafficking and homeostasis during myelin biogenesis using in vivo and ex vivo models of myelination;
  • exploit these mechanisms to design therapeutical strategies to ameliorate PNS diseases.