Per Westermark – Amyloid research

The assembly of proteins into amyloid fibrils as cause of disease is attracting increasing attention, not only in systemic disorders and in connection with neurodegenerative conditions but also associated with other diseases such as type 2 diabetes and several cardiovascular disorders. We have a broad interest in the nature, pathogenesis and impact of a number of amyloid diseases, both systemic and localized.

Together with researchers in Umeå we have found that there are two distinct phenotypes in Swedish familial transthyretin (TTR)-derived amyloidosis and that these are characterized by differences in posttranslational processing of the protein. We can distinguish between the two with the aid of a simple subcutaneous adipose tissue biopsy. This is important since one of the phenotypes carries a big risk of progressive cardiomyopathy.

The spread of amyloid diseases

Another of our areas of interest is the spread of amyloid diseases through a mechanism similar to the transmission of prions. Together with G.T. Westermark at the Department of Medical Cell Biology, we have used an experimental model of AA amyloidosis and seen that both naturally and non-naturally occurring forms of amyloid fibrils can cause disease. In collaboration with researchers at SLU, we investigate the possibility that AA amyloid may be present in our environment and act as a risk factor for the onset of AA-amyloidosis in animals and humans. We are also interested in the origin and spread of age-related transthyretin amyloidosis.

Amyloid in other medical conditions

Local presence of amyloid has been shown to be important for Alzheimer's disease and type 2 diabetes and we are currently investigating the role of amyloid in other diseases, especially aortic aneurysms, atherosclerosis and certain heart valve conditions. The presence of amyloid in atherosclerosis is an overlooked phenomenon and we are currently evaluating a protein that could constitute an amyloid fibril in atherosclerosis.

Reference laboratory for amyloid diseases

Our laboratory serves as a reference laboratory for diagnosing amyloid diseases and is from 1 July 2024 part of national highly specialized care (NHV) of systemic amyloidosis at Uppsala University Hospital. The laboratory focuses on developing existing methods for determining the type of amyloidosis. For this reason, we are also developing new antibodies for use in clinical applications and are also applying mass spectroscopy.