Homer's Cyclops might be myth, but a disorder that can cause babies to be born with only one eye is very real. Scientists from Cleveland, Ohio, and Paris, France, reached an important milestone in understanding one of the molecular causes of a rare, but serious birth defect, Holoprosencephaly.
In a study to appear in the February issue of The FASEB Journal, researchers describe findings that help explain why and how some fetal brains fail to develop two lobes, as well as why and how the related skull and facial defects occur. Using the information from this study, researchers will be able to pursue better approaches toward detecting, preventing, and treating this serious disorder.
The authors describe how a known mutation of the TG interacting factor (TGIF) gene, called TGIF.P63R, causes Holoprosencephaly, which affects brain and skull formation. In particular, researchers found that this mutation not only does not produce the protein necessary for healthy fetal development, but the mutant protein may actually destroy the small amounts of the normal protein that is needed.
"The name 'Holoprosencephaly' is a mouthful, but the syndrome is awful. This is a devastating condition that has lifelong effects, both for the child and the parents," said Gerald Weissmann, MD, Editor-in-Chief of The FASEB Journal. "The new information in this study sheds much-needed light on the complex molecular processes involved in this disorder and allows researchers to identify new areas of intervention."
Holoprosencephaly occurs when the embryonic forebrain fails to divide into the two lobes that make up the cerebral hemispheres. As a result, people with this disorder have a single-lobed brain structure and severe skull and facial defects. In most cases, the disorder is so severe that fetuses die before birth. In relatively "mild" cases, babies may be born with near-normal brain development, but they usually have facial deformities affecting the eyes, nose, and/or upper lip.
Cody Mooneyhan | EurekAlert!
New study: How does Europe become a leading player for software and IT services?
03.04.2017 | Fraunhofer-Institut für System- und Innovationsforschung (ISI)
Reusable carbon nanotubes could be the water filter of the future, says RIT study
30.03.2017 | Rochester Institute of Technology
Physicists from the University of Würzburg are capable of generating identical looking single light particles at the push of a button. Two new studies now demonstrate the potential this method holds.
The quantum computer has fuelled the imagination of scientists for decades: It is based on fundamentally different phenomena than a conventional computer....
An international team of physicists has monitored the scattering behaviour of electrons in a non-conducting material in real-time. Their insights could be beneficial for radiotherapy.
We can refer to electrons in non-conducting materials as ‘sluggish’. Typically, they remain fixed in a location, deep inside an atomic composite. It is hence...
Two-dimensional magnetic structures are regarded as a promising material for new types of data storage, since the magnetic properties of individual molecular building blocks can be investigated and modified. For the first time, researchers have now produced a wafer-thin ferrimagnet, in which molecules with different magnetic centers arrange themselves on a gold surface to form a checkerboard pattern. Scientists at the Swiss Nanoscience Institute at the University of Basel and the Paul Scherrer Institute published their findings in the journal Nature Communications.
Ferrimagnets are composed of two centers which are magnetized at different strengths and point in opposing directions. Two-dimensional, quasi-flat ferrimagnets...
An Australian-Chinese research team has created the world's thinnest hologram, paving the way towards the integration of 3D holography into everyday...
In the race to produce a quantum computer, a number of projects are seeking a way to create quantum bits -- or qubits -- that are stable, meaning they are not much affected by changes in their environment. This normally needs highly nonlinear non-dissipative elements capable of functioning at very low temperatures.
In pursuit of this goal, researchers at EPFL's Laboratory of Photonics and Quantum Measurements LPQM (STI/SB), have investigated a nonlinear graphene-based...
23.05.2017 | Event News
22.05.2017 | Event News
17.05.2017 | Event News
24.05.2017 | Life Sciences
24.05.2017 | Life Sciences
24.05.2017 | Physics and Astronomy