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Nuclear lamins and lipodystrophic laminopathies

Using patient cells and engineered adipose tissue stem cells, we mechanistically investigate the deregulation of adipogenic differentiation by lipodystrophic LMNA mutations in upper and lower body adipose tissue.

Computer generated model of lipid-filled adipocyes

About the project

The nuclear envelope regulates gene expression through dynamic interactions with chromatin. It consists of a double nuclear membrane, nuclear pores and the nuclear lamina, a meshwork of A-type lamins (LMNA/C) and B-type lamins (LMNB1, LMNB2). Mutations in LMNA cause laminopathies, including lipodystrophies.

Familial partial lipodystrophy of Dunnigan type (FPLD2), caused by the host-spot LMNA p.R482W mutation, affects adipose tissue in a fat depot-specific manner and leads to severe metabolic disorders.

Ongoing research

  • Molecular regulation of upper vs. lower body adipose tissue expansion
  • Role of LMNA on genome conformation and gene regulation in adipose stem cells
  • Impacts of lipodystrophic LMNA mutations on spatial genome organization and function

Outcomes/Recent findings


The University of Oslo, The Research Council of Norway, South-East Norway Regional Health Authorities


  • Jøran Hjelmesæth and Jens Hertel, Morbid Obesity Center, Vestfold Hospital Trust, Tønsberg, Norway
  • Yvonne Böttcher, Institute of Clinical Medicine, Oslo University Hospital and University of Oslo, Norway
  • Corinne Vigouroux, Hôpital Saint Antoine, INSERM, Paris, France
  • Fredrick Karpe, Oxford Centre for Diabetes, Endocrinology and Metabolism (OCDEM), University of Oxford, UK
  • Anna Kostareva, Almazov Research Center, St. Petersburg, Russia
Published May 28, 2019 8:33 AM - Last modified June 7, 2022 11:24 AM