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Congratulations to Dr Erdinc Sezgin from MRC HIU, awarded a pump-priming grant to study the role of lipids on NPC disease.

Niemann-Pick disease Type C (NPC) is a potentially fatal inherited lysosomal storage disease, which affects one in 120,000 children. The disease is caused by mutations in either the NPC1 or NPC2 genes, which play an important role in lipid transport between the plasma membrane and intracellular compartments. NPC is characterised by lipid accumulation in lysosomes; however, the pathway from mutation to pathophysiology is not fully understood.

Dr Sezgin and his collaborator Prof Fran Platt hypothesize that the problems with lipid transport affect the membrane’s lipid composition, thus potentially altering biophysical properties of the plasma membrane. Their proposal aims to study the changes in biophysical properties and lipid composition of NPC cell membranes and link these to the cellular alterations observed in NPC disease.

This study will be a cornerstone for the future molecular understanding of NPC, elucidating the role of plasma membrane lipids in the disease and its link with cellular signalling
- Dr Sezgin

To discover more about the biophysical properties of the membranes, Dr Sezgin will use advanced super-resolution microscopy and spectroscopy techniques. Moreover, he will use lipidomics to analyse the molecular lipid composition of membranes in disease conditions. These techniques will also be used to discover more about the mechanism of action of the drugs used for treating NPC.

            Dr Sezgin is a British Council Newton Fellow in the Eggeling group at the MRC Human Immunology Unit (Radcliffe Department of Medicine). He is interested in the role of membrane organisation on immune signalling. Dr Sezgin studied at Yeditepe University in Istanbul before undertaking his PhD at the International Max Planck Research School in Dresden. He joined the MRC WIMM in 2014.

Dr Sezgin was awarded £10,000 to fund 8 months’ worth of research. The funds were granted through the Medical Sciences Internal Fund Pump Priming Scheme, which is aimed at financing pilot data in an effort to break ground on emerging research fields.

 

News story written by David Schramm, Biochemistry undergraduate at Hertford College, who did a microinternship in science communication at the MRC WIMM in March 2019.

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