Scientists at the Max Planck Institute for Molecular Genetics and the Institute of Medical Genetics at the Charité Universitätsmedizin - Berlin have succeeded in using a new process with which all of the genes in the human genome can be analysed simultaneously.
The process was used for the first time on three children in a family who suffer from a rare form of mental retardation (Mabry Syndrome). The analysis revealed a mutation in the PIGV gene that results in the inability of proteins, for example alkaline phosphatase, to anchor to the surface of cell membranes. The results reveal that the new genome sequencing processes are suitable for tracking down individual mutations in the genome and for the identification of these mutations as the cause of rare diseases. (Nature Genetics, August 29th 2010)
The Berlin-based researchers used high throughput sequencing technology for the first time to identify the genetic defect behind a very rare disease. "It was like the proverbial search for a needle in a haystack. We fished out solely the 22,000 genes from the entire genome, decoded their sequence and examined them for mutations. Using new bioinformatic analyses, we were able to limit the number of mutation candidates to two – one of which is ultimately responsible for Mabry Syndrome," explains Michal Ruth Schweiger from the Max Planck Institute for Molecular Genetics. The available results will enable, for example, the identification of the genetic risk in affected couples who would like to have children.
Mabry Syndrome is a rare recessive genetic disorder that causes mental retardation, seizures and a characteristic mutation in the blood values of those affected. The raised level of the enzyme alkaline phosphatase, which usually plays a role in bone metabolism, can be measured in the blood. The researchers succeeded in showing that in the case of Mabry Syndrome the PIGV gene is mutated. PIGV codes, in turn, for an enzyme that is involved in the formation of the GPI anchor. This carbohydrate molecule binds proteins to the cell membrane. According to the scientists in Berlin, the gene for PIGV is mutated in such a way that the alkaline phosphatase is not adequately connected to the cell membrane. It separates from the membrane, accumulates in the blood, and thereby leads to an increase in blood levels. The researchers assume that PIGV in the brain is responsible for the anchoring of many other proteins and that this malfunction is responsible for the mental retardation associated with Mabry Syndrome.
Based on these results, the scientists will be able to carry out further research on the disease and develop new options for its treatment. The methods of genome analysis developed here enable the identification of mutations even in the case of extremely rare diseases and represent an important step forward in the direction of individualised molecular medicine.
Nature Genetics, August 29th 2010
Patricia Marquardt | EurekAlert!
Cryo-electron microscopy achieves unprecedented resolution using new computational methods
24.03.2017 | DOE/Lawrence Berkeley National Laboratory
How cheetahs stay fit and healthy
24.03.2017 | Forschungsverbund Berlin e.V.
Astronomers from Bonn and Tautenburg in Thuringia (Germany) used the 100-m radio telescope at Effelsberg to observe several galaxy clusters. At the edges of these large accumulations of dark matter, stellar systems (galaxies), hot gas, and charged particles, they found magnetic fields that are exceptionally ordered over distances of many million light years. This makes them the most extended magnetic fields in the universe known so far.
The results will be published on March 22 in the journal „Astronomy & Astrophysics“.
Galaxy clusters are the largest gravitationally bound structures in the universe. With a typical extent of about 10 million light years, i.e. 100 times the...
Researchers at the Goethe University Frankfurt, together with partners from the University of Tübingen in Germany and Queen Mary University as well as Francis Crick Institute from London (UK) have developed a novel technology to decipher the secret ubiquitin code.
Ubiquitin is a small protein that can be linked to other cellular proteins, thereby controlling and modulating their functions. The attachment occurs in many...
In the eternal search for next generation high-efficiency solar cells and LEDs, scientists at Los Alamos National Laboratory and their partners are creating...
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are less stable. Now researchers at the Technical University of Munich (TUM) have, for the first time ever, produced a composite material combining silicon nanosheets and a polymer that is both UV-resistant and easy to process. This brings the scientists a significant step closer to industrial applications like flexible displays and photosensors.
Silicon nanosheets are thin, two-dimensional layers with exceptional optoelectronic properties very similar to those of graphene. Albeit, the nanosheets are...
Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to simulate these confined natural conditions in artificial vesicles for the first time. As reported in the academic journal Small, the results are offering better insight into the development of nanoreactors and artificial organelles.
Enzymes behave differently in a test tube compared with the molecular scrum of a living cell. Chemists from the University of Basel have now been able to...
20.03.2017 | Event News
14.03.2017 | Event News
07.03.2017 | Event News
24.03.2017 | Materials Sciences
24.03.2017 | Physics and Astronomy
24.03.2017 | Physics and Astronomy