Familial amyloid polyneuropathy (FAP), a hereditary disease characterised by abnormal deposits of insoluble protein in the organs, results from a mutation in a single gene (the transthyretin or TTR gene). Nevertheless, disease incidence and age of onset can vary significantly between patients what have always puzzled scientists. Now, in the latest issue of the journal Human Molecular Genetics, a team of researchers propose for the first time that other genes might be involved in the clinical signs of FAP what would exxplain why patients with a single TTR mutation can, nevertheless, have such different disease.
Amyloidoses are diseases where normally soluble proteins form insoluble deposits (amyloids) causing organ damage and many times patient death. Examples include Alzheimer’s disease and Creutzfeldt-Jakob Disease or CJD (the human variant of mad cow disease) and also familial amyloid polyneuropathy or FAP. FAP was been first described in 1939 in the Portuguese population and is believed to have been spread by Portuguese sailors to Sweden and Japan, and from there to the rest of the world. The condition results from a mutation in the gene coding for transthyretin (TTR), a human plasma protein, that becomes insoluble creating the particular amyloids of FAP.
Although FAP is provoked by a single gene mutation, symptoms and disease mortality vary enormously among patients. Portuguese sufferers, for example, tend to have an early disease onset (around 20-35 years of age) and an extremely severe disease with multiple organs affected, including peripheral nerves, kidney, heart, stomach and the small intestine. Patients tend to die within 10 years although some might last less than 2 years. In Sweden, on the other hand, the majority of patients have a much later disease onset, usually after the age of 50, and a much slower disease progression. Such variations have made scientists believe that other factors, such as the environment or additional genes, were also involved in the pathology.
Catarina Amorim | alfa
GLUT5 fluorescent probe fingerprints cancer cells
20.04.2018 | Michigan Technological University
Scientists re-create brain neurons to study obesity and personalize treatment
20.04.2018 | Cedars-Sinai Medical Center
Physicists at the Laboratory for Attosecond Physics, which is jointly run by Ludwig-Maximilians-Universität and the Max Planck Institute of Quantum Optics, have developed a high-power laser system that generates ultrashort pulses of light covering a large share of the mid-infrared spectrum. The researchers envisage a wide range of applications for the technology – in the early diagnosis of cancer, for instance.
Molecules are the building blocks of life. Like all other organisms, we are made of them. They control our biorhythm, and they can also reflect our state of...
University of Connecticut researchers have created a biodegradable composite made of silk fibers that can be used to repair broken load-bearing bones without the complications sometimes presented by other materials.
Repairing major load-bearing bones such as those in the leg can be a long and uncomfortable process.
Study published in the journal ACS Applied Materials & Interfaces is the outcome of an international effort that included teams from Dresden and Berlin in Germany, and the US.
Scientists at the Helmholtz-Zentrum Dresden-Rossendorf (HZDR) together with colleagues from the Helmholtz-Zentrum Berlin (HZB) and the University of Virginia...
Novel highly efficient and brilliant gamma-ray source: Based on model calculations, physicists of the Max PIanck Institute for Nuclear Physics in Heidelberg propose a novel method for an efficient high-brilliance gamma-ray source. A giant collimated gamma-ray pulse is generated from the interaction of a dense ultra-relativistic electron beam with a thin solid conductor. Energetic gamma-rays are copiously produced as the electron beam splits into filaments while propagating across the conductor. The resulting gamma-ray energy and flux enable novel experiments in nuclear and fundamental physics.
The typical wavelength of light interacting with an object of the microcosm scales with the size of this object. For atoms, this ranges from visible light to...
Stable joint cartilage can be produced from adult stem cells originating from bone marrow. This is made possible by inducing specific molecular processes occurring during embryonic cartilage formation, as researchers from the University and University Hospital of Basel report in the scientific journal PNAS.
Certain mesenchymal stem/stromal cells from the bone marrow of adults are considered extremely promising for skeletal tissue regeneration. These adult stem...
13.04.2018 | Event News
12.04.2018 | Event News
09.04.2018 | Event News
23.04.2018 | Physics and Astronomy
23.04.2018 | Physics and Astronomy
23.04.2018 | Trade Fair News