Navigation Links
All genes in 1 go

The majority of rare diseases are hereditary. But despite significant progress in genome research, in most cases their exact cause remains unclear. The discovery of the underlying genetic defect is, however, a prerequisite for their definitive diagnosis and the development of innovative approaches to their treatment. Scientists at the Max Planck Institute for Molecular Genetics and the Institute of Medical Genetics at the Charit Universittsmedizin - 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.


Contact: Patricia Marquardt

Related biology news :

1. Cactus genes connect modern Mexico to its prehistoric past
2. Scientist IDs genes that promise to make biofuel production more efficient, economical
3. Developmental problems: Some exist in the genes
4. Scientists reveal new targets for anti-angiogenesis drugs
5. Genes from sweet pepper to fortify African banana against devastating wilt disease
6. The taste of quinine: Its in your bitter genes
7. Important clue to understanding the pathogenesis of ciliary disorders
8. Disease genes that followed the Silk Road identified
9. Divide and conquer: Genes decide who wins in the bodys battle against cancer
10. What plant genes tell us about crop domestication
11. Maternal diet and genes interact to affect heart development
Post Your Comments:
Related Image:
All genes in 1 go
(Date:3/29/2017)... , March 29, 2017  higi, the health ... in North America , today announced ... and the acquisition of EveryMove. The new investment and ... set of tools to transform population health activities through ... lifestyle data. higi collects and secures data ...
(Date:3/27/2017)... March 27, 2017  Catholic Health Services (CHS) ... Systems Society (HIMSS) Analytics for achieving Stage 6 ... sm . In addition, CHS previously earned a ... using an electronic medical record (EMR). ... level of EMR usage in an outpatient setting.  ...
(Date:3/24/2017)... Research and Markets has announced the addition ... Trends - Industry Forecast to 2025" report to their offering. ... The Global Biometric ... of around 15.1% over the next decade to reach approximately $1,580 ... market estimates and forecasts for all the given segments on global ...
Breaking Biology News(10 mins):
(Date:10/12/2017)... Diego, CA (PRWEB) , ... ... ... ( ) has launched Rosalind™, the first-ever genomics analysis platform specifically ... all bioinformatics complexity. Named in honor of pioneering researcher Rosalind Franklin, who ...
(Date:10/11/2017)... (PRWEB) , ... October 11, 2017 , ... ComplianceOnline’s Medical ... place on 7th and 8th June 2018 in San Francisco, CA. The Summit brings ... well as several distinguished CEOs, board directors and government officials from around the world ...
(Date:10/11/2017)... ... 11, 2017 , ... Disappearing forests and increased emissions are the main causes ... each year. Especially those living in larger cities are affected by air pollution related ... the most pollution-affected countries globally - decided to take action. , “I knew I ...
(Date:10/10/2017)... ... October 10, 2017 , ... ... antibody-drug conjugate (ADC) therapeutics, today confirmed licensing rights that give it exclusive ... a technology developed in collaboration with Children’s Hospital Los Angeles (CHLA). ...
Breaking Biology Technology: