Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

New clues to amyloidoses ?

21.02.2005


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.



Now Miguel L. Soares, Teresa Coelho, Joel N. Buxbaum and colleagues from research groups in Portugal and the US, in an attempt to understand the variations observed in the disease, studied 92 patients with different severity and age of onset. The team of scientists looked at genes involved either with TTR function (genes coding for proteins that metabolically interact with TTR) or amyloid deposition. Soares, Coelho, Buxbaum and colleagues’ results seem to indicate that the variability in disease found among different patients originates, not from the action of a particular gene, but from the combined interaction of several genes. The genes proposed to be involved in FAP include the APCS gene, which code for a protein found in the FAP amyloid deposit and the RBP gene which codes for retinol-binding protein, a vitamin A carrier which circulates in the plasma bound to TTR and so it can affect TTR solubility. Interestingly too, it seems that different ages of onset are influenced by distinct sets of genes (in addition to the TTR mutation) almost as independent diseases.

Soares, Coelho, Buxbaum and colleagues’ results are very interesting as, with further studies, they might be used to predict disease and consequently help the treatment of patients with TTR mutation but yet with no symptoms. Their work might also help to understand why elderly individuals, with no mutation in the TTR gene, can, nevertheless, present extended amyloid deposits and suffer the consequently organ damage. Finally, their studies might also contribute to research into the mechanisms behind other amyloidoses such as CJD or Alzheimer’s.

Piece researched and written by: Catarina Amorim (catarina.amorim@linacre.ox.ac.uk)

Catarina Amorim | alfa
Further information:
http://hmg.oupjournals.org/cgi/content/abstract/14/4/543

More articles from Health and Medicine:

nachricht Cholesterol-lowering drugs may fight infectious disease
22.08.2017 | Duke University

nachricht Once invincible superbug squashed by 'superteam' of antibiotics
22.08.2017 | University at Buffalo

All articles from Health and Medicine >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Fizzy soda water could be key to clean manufacture of flat wonder material: Graphene

Whether you call it effervescent, fizzy, or sparkling, carbonated water is making a comeback as a beverage. Aside from quenching thirst, researchers at the University of Illinois at Urbana-Champaign have discovered a new use for these "bubbly" concoctions that will have major impact on the manufacturer of the world's thinnest, flattest, and one most useful materials -- graphene.

As graphene's popularity grows as an advanced "wonder" material, the speed and quality at which it can be manufactured will be paramount. With that in mind,...

Im Focus: Exotic quantum states made from light: Physicists create optical “wells” for a super-photon

Physicists at the University of Bonn have managed to create optical hollows and more complex patterns into which the light of a Bose-Einstein condensate flows. The creation of such highly low-loss structures for light is a prerequisite for complex light circuits, such as for quantum information processing for a new generation of computers. The researchers are now presenting their results in the journal Nature Photonics.

Light particles (photons) occur as tiny, indivisible portions. Many thousands of these light portions can be merged to form a single super-photon if they are...

Im Focus: Circular RNA linked to brain function

For the first time, scientists have shown that circular RNA is linked to brain function. When a RNA molecule called Cdr1as was deleted from the genome of mice, the animals had problems filtering out unnecessary information – like patients suffering from neuropsychiatric disorders.

While hundreds of circular RNAs (circRNAs) are abundant in mammalian brains, one big question has remained unanswered: What are they actually good for? In the...

Im Focus: RAVAN CubeSat measures Earth's outgoing energy

An experimental small satellite has successfully collected and delivered data on a key measurement for predicting changes in Earth's climate.

The Radiometer Assessment using Vertically Aligned Nanotubes (RAVAN) CubeSat was launched into low-Earth orbit on Nov. 11, 2016, in order to test new...

Im Focus: Scientists shine new light on the “other high temperature superconductor”

A study led by scientists of the Max Planck Institute for the Structure and Dynamics of Matter (MPSD) at the Center for Free-Electron Laser Science in Hamburg presents evidence of the coexistence of superconductivity and “charge-density-waves” in compounds of the poorly-studied family of bismuthates. This observation opens up new perspectives for a deeper understanding of the phenomenon of high-temperature superconductivity, a topic which is at the core of condensed matter research since more than 30 years. The paper by Nicoletti et al has been published in the PNAS.

Since the beginning of the 20th century, superconductivity had been observed in some metals at temperatures only a few degrees above the absolute zero (minus...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

Event News

Call for Papers – ICNFT 2018, 5th International Conference on New Forming Technology

16.08.2017 | Event News

Sustainability is the business model of tomorrow

04.08.2017 | Event News

Clash of Realities 2017: Registration now open. International Conference at TH Köln

26.07.2017 | Event News

 
Latest News

Researchers devise microreactor to study formation of methane hydrate

23.08.2017 | Materials Sciences

ShAPEing the future of magnesium car parts

23.08.2017 | Automotive Engineering

New insights into the world of trypanosomes

23.08.2017 | Life Sciences

VideoLinks
B2B-VideoLinks
More VideoLinks >>>