An international team of researchers led by the human geneticist Dr. Hanno Bolz (Institute of Human Genetics, University Hospital of Cologne) and Dr. Bernhard Schermer (head of the Nephrolab Cologne) has identified defects in the KIF7 gene in patients with Joubert syndrome and uncovered a novel mechanism for this disease. The study has been published online in The Journal of Clinical Investigation and will appear in the July print issue.
The team investigated an Egyptian family that tested negative for all known Joubert genes. “Because the parents in this family were related, it was highly suited for identifying a novel gene for Joubert syndrome” says Bolz.
The geneticists localized the disorder to the long arm of chromosome 15 (designation for the new disease gene locus: JBTS12) and subsequently identified mutations in the KIF7 gene in the Egyptian family and in additional patients. KIF7 encodes a ciliary motor protein.
Cilia are antenna-like structures on the cell surface, and many research laboratories worldwide focus on elucidating the functions of this organelle. Cilia are sensory organelles that transmit environmental signals into the cell. An increasing number of genetic diseases have been linked to ciliary dysfunction (the so-called “ciliopathies”).
One patient was found to carry a KIF7 mutation together with two mutations in a known Joubert gene, TMEM67. “This is a phenomenon in ciliopathy genetics that we became more and more aware of over the recent years” explains Dr. Bolz. In 2010, the group has already described similar “oligogenic inheritance” for another ciliopathy, Usher syndrome, also in The Journal of Clinical Investigation. “Besides, KIF7 represents a prime candidate for mono- and oligogenic forms of related ciliopathies, namely Meckel-Gruber, Senior Loken, and Bardet-Biedl syndromes, Leber congenital amaurosis, and nephronophthisis” Bolz adds.
“Chemical substances such as hormones or cytokines bind to ciliary receptors which initiates different activities in the cell” says Dr. Bernhard Schermer. “In the kidney, the urine flow deflects the cilia. Through this, the cells receive informations on flow rate and direction.”
This cytoskeleton regulates important routes of transport through the cell and thereby influences the cell’s shape and orientation. “Our findings indicate a novel pathomechanism for Joubert syndrome that may also be the basis for other ciliopathies” Dr. Schermer concludes.
Besides the two teams from Cologne, researchers from the Ain Shams University in Cairo, the Department of Paediatric Neurology, University Children’s Hospital of Zurich, the Department of Pediatrics, Innsbruck Medical University, the German Cancer Research Center, Heidelberg, des DKFZ in Heidelberg, Zentrum für Kinder- und Jugendmedizin, Klinikum Oldenburg, the Institute of Human Genetics, University Hospital of Schleswig-Holstein, the Department of Radiology and the Department of Anatomy, University of Cologne, contributed to the study.
The study was supported by the Deutsche Forschungsgemeinschaft, the Pro Retina Foundation Germany, Köln Fortune (University Hospital of Cologne), and the Gertrud Kusen-Stiftung.Publication:
Christoph Wanko | idw
Novel mechanisms of action discovered for the skin cancer medication Imiquimod
21.10.2016 | Technische Universität München
Second research flight into zero gravity
21.10.2016 | Universität Zürich
Researchers from the Institute for Quantum Computing (IQC) at the University of Waterloo led the development of a new extensible wiring technique capable of controlling superconducting quantum bits, representing a significant step towards to the realization of a scalable quantum computer.
"The quantum socket is a wiring method that uses three-dimensional wires based on spring-loaded pins to address individual qubits," said Jeremy Béjanin, a PhD...
In a paper in Scientific Reports, a research team at Worcester Polytechnic Institute describes a novel light-activated phenomenon that could become the basis for applications as diverse as microscopic robotic grippers and more efficient solar cells.
A research team at Worcester Polytechnic Institute (WPI) has developed a revolutionary, light-activated semiconductor nanocomposite material that can be used...
By forcefully embedding two silicon atoms in a diamond matrix, Sandia researchers have demonstrated for the first time on a single chip all the components needed to create a quantum bridge to link quantum computers together.
"People have already built small quantum computers," says Sandia researcher Ryan Camacho. "Maybe the first useful one won't be a single giant quantum computer...
COMPAMED has become the leading international marketplace for suppliers of medical manufacturing. The trade fair, which takes place every November and is co-located to MEDICA in Dusseldorf, has been steadily growing over the past years and shows that medical technology remains a rapidly growing market.
In 2016, the joint pavilion by the IVAM Microtechnology Network, the Product Market “High-tech for Medical Devices”, will be located in Hall 8a again and will...
'Ferroelectric' materials can switch between different states of electrical polarization in response to an external electric field. This flexibility means they show promise for many applications, for example in electronic devices and computer memory. Current ferroelectric materials are highly valued for their thermal and chemical stability and rapid electro-mechanical responses, but creating a material that is scalable down to the tiny sizes needed for technologies like silicon-based semiconductors (Si-based CMOS) has proven challenging.
Now, Hiroshi Funakubo and co-workers at the Tokyo Institute of Technology, in collaboration with researchers across Japan, have conducted experiments to...
14.10.2016 | Event News
14.10.2016 | Event News
12.10.2016 | Event News
21.10.2016 | Health and Medicine
21.10.2016 | Information Technology
21.10.2016 | Materials Sciences