Scientists have discovered the cause of the hereditary disease PCH

Scientists from Cologne and Amsterdam have discovered the mutations in human genetics, which cause the hereditary disease ponto cerebellar hypoplasia (PCH) of the types 2 and 4.

“In the case of PCH, the protein complex – the so-called tRNA-Splicing-Endonuclease, is mutated. This complex in involved in the manufacture of proteins in the human body and was identified in connection with a disease for the first time,” reports Birgit Budde from the Cologne Center for Genomics and Institute for Genetics of the University of Cologne.

The disease PCH occurs when certain areas of the brain do not develop properly; this results in severe mental and physical developmental disorders. Life expectancy of those affected ranges from a few months to a few years. PCH2 was first described as a syndrome in 1990 with reference to persons affected who came from the Dutch fishing village Volendam.

Due to historical reasons, the village became isolated and remained so over centuries; the inhabitants began to marry close relatives. This resulted in a conspicuously high amount of cases of the illness in this village, as PCH usually only occurs, when both parents pass on the predisposition for this disease. Families from Volendam were the starting point for the present study.

In the mean time, cases of the disease have been discovered in other parts of Europe. Based on these, scientists have been able to prove that the majority of the cases of PCH2, including those of the village of Volendam, have a common ancestor. This common ancestor lived during the 17th century. The results of the most recent research will be published in the renowned magazine Nature Genetics. “The identification of mutations, which cause PCH2 and PCH4, is an important step in the research of ponto cerebellar hypoplasia,” according to Dr. Budde.

Media Contact

Patrick Honecker alfa

All latest news from the category: Life Sciences and Chemistry

Articles and reports from the Life Sciences and chemistry area deal with applied and basic research into modern biology, chemistry and human medicine.

Valuable information can be found on a range of life sciences fields including bacteriology, biochemistry, bionics, bioinformatics, biophysics, biotechnology, genetics, geobotany, human biology, marine biology, microbiology, molecular biology, cellular biology, zoology, bioinorganic chemistry, microchemistry and environmental chemistry.

Back to home

Comments (0)

Write a comment

Newest articles

Lighting up the future

New multidisciplinary research from the University of St Andrews could lead to more efficient televisions, computer screens and lighting. Researchers at the Organic Semiconductor Centre in the School of Physics and…

Researchers crack sugarcane’s complex genetic code

Sweet success: Scientists created a highly accurate reference genome for one of the most important modern crops and found a rare example of how genes confer disease resistance in plants….

Evolution of the most powerful ocean current on Earth

The Antarctic Circumpolar Current plays an important part in global overturning circulation, the exchange of heat and CO2 between the ocean and atmosphere, and the stability of Antarctica’s ice sheets….

Partners & Sponsors