Erik Lundgren
Umeå University, Sweden
E-mail: erik.lundgren@molbio.umu.se
Phone: + 46 90 133536
Overall research program
Studies of biophysical properties and three dimensional structure of amyloidogenic mutants of transthyretin, both clinically occurring and constructed mutants. Studies of toxicity and its molecular mechansisms including receptors on cell surface, signaling pathways and role of different forms of programmed cell death. Development of a disease model in Drosophila melanogaster for test of drug candidates, and identification of modifying tissue factors. Development of drugs blocking amyloid formation or toxicity.
Five key publications
1. Goldsteins G, Persson H, Andersson K, Olofsson A, Dacklin I, Edvinsson A and
Lundgren, E. Exposure of cryptic epitopes on transthyretin only in amyloid and in
amyloidogenic mutants. Proc Natl Acad Sci U S A 96:3108-13, 1999
2. Eneqvist T, Andersson K, Olofsson A, Lundgren E, Sauer-Eriksson AE. The -slip –
a new concept in transthyretin amyloidosis. Molecular Cell, 6:1207-1218, 2000.
3. Olofsson A, Hippel HJ, Baranov V, Hörstedt X, Wijmenga S, Lundgren E. Capture of
a dimeric intermediate during transthyretin amyloid formation J. Biol. Chem. 276,
39592-39599, 2001
4. Ippel JH, Olofsson A, Schleucher J, Lundgren E, Wijmenga SS. Probing solvent
accessibility of amyloid fibrils by solution NMR spectroscopy. Proc Natl Acad Sci USA
99: 8648-8653, 2002
5. Olofsson A, Ippel JH, Wijmenga SS, Lundgren E, Öhman A. Probing solvent
accessibility of transthyretin amyloid by solution NMR spectroscopy. J Biol Chem
279:5699-5707, 2004
Ole Suhr
Umeå University, Sweden
E-mail: Ole.suhr@medicin.umu.se
Phone: + 46 90
Overall research program
The Swedish centre at Umeå University Hospital for familial amyloidosis receives patients for diagnosis and evaluation especially for organ transplantation from all over the country. We investigate a clinically well-characterised patient population and conduct studies on expression and penetrance of the gene in the endemic area of the disease. We initiated the only available effective treatment for transthyretin amyloidosis, liver transplantation, and follow transplanted Swedish patients and investigate the impact of phenotype and associated genes on mortality and morbidity.
We will search for other genes associated with penetrance, age at onset and phenotype of the disease, based on material from patients and from a population based gene bank covering the endemic area.
Five key publications
1. Holmgren G, Hellman U, Lundgren H-E, Sandgren O, Suhr OB. Impact of
homozygosity for an amyloidogenic transthyretin mutation on phenotype
and long-term outcome. J Med Genet. In press 2005
2. Hornsten R, Wiklund U, Olofsson BO, Jensen SM, Suhr OB. Liver transplantation
does not prevent the development of life-threatening arrhythmia in familial
amyloidotic polyneuropathy, Portuguese-type (ATTR Val30Met) patients.
Transplantation. 78:112-116, 2004
3. Suhr OB, Ericzon B-G, Friman S. Long-term follow-up of survival of liver transplant
recipiens with familial amyloid polyneuropathy (Portuguese type). Liver
Transplantation. 8:787-794, 2002.
4. Olofsson B-O, Backman C, Karp K, Suhr OB. Progression of cardiomyopathy after
liver transplantation in patients with familial amyloidotic polyneuropathy,
Portuguese type. Transplantation 73: 745-751, 2002
5. Matsunaga N, Anan I, Forsgren S, Nagai R, Rosenberg P, Horiuchi S, Ando Y, Suhr
OB. Advanced glycation end products (AGE) and the receptor for AGE are present in
familial amyloidotic polyneuropathy patients’ gastrointestinal tract but do not
induce NF-kB activation. Acta Neuropathol. 104:441-447, 2002