I’m in the first year of my PhD at the DeTROI laboratory at the Université de La Réunion, Reunion Island (French Department in the Indian Ocean). I have a bachelor’s degree in health science and master’s degree in health biology, specialising in chronic and metabolic diseases. I worked and currently working in a particular genetic disease the FPLD2 (Familial Partial Lipodystrophy type 2) or Dunnigan Lipodystrophy.
This disease is due to pathogenic variants in LMNA encoding lamin A/C which plays an important role in nuclear structure and a particular role in adipose tissue maintenance.
The first clinical signs of FPLD2 typically start around puberty with progressive subcutaneous fat loss in upper limbs, gluteo-femoral adipose tissue and trunk, and fat accumulation in the cervico-facial area, neck, upper chest, and visceral fat. Resulting from their inability to adequately store fat in adipose tissue, subjects with FPLD2 typically present with a severe form of metabolic syndrome associated with marked insulin resistance and the related complications: diabetes, dyslipidaemia, non-alcoholic fatty liver disease (NAFLD), polycystic ovary syndrome (PCOS), and premature cardiovascular disease (CVD) which also represents a direct consequence of lamin A/C dysfunction.
The aim of my PhD project is to use the lipidomic to identify biomarkers of the onset of metabolic complications in order to improve the management of the subjects with Dunnigan’s Lipodystrophy linked to the ‘reunionese’ mutation p.(Thr655Asnfs*49). My PhD is part of a collaborative project OMDIABRUN between the Reunion University Hospital and the Metabolomics laboratory at the Baker Institute, where I will acquire lipidomic expertise.
It is crucial to identify lipid biomarkers related to the lipidome of those subjects to assess the level of risk of developing type 2 diabetes and to see if there is a lipidomic signature for this rare disease.
Early diagnosis of lipodystrophy is essential to prevent life-threatening complications. Furthermore, better knowledge of the physiopathology that underlines the disease is important to adapt medical management and care.