Researchers at Yale identify a genetic link to Tourettes Syndrome
In what may be a major milestone in Tourettes Syndrome (TS) research, scientists at Yale School of Medicine and their colleagues have identified a gene called SLITRK1 that appears to contribute to some cases of TS, according to a report in the October 14 issue of Science.
"We now have rare mutations, expression and functional data, all supporting a role for this gene in Tourettes Syndrome," said senior author Matthew State, M.D., Harris Assistant Professor in the Yale Child Study Center and in the Department of Genetics at Yale. "This finding could provide an important clue in understanding Tourettes on a molecular and cellular level. Confirming this, in even a small number of additional TS patients, will pave the way for a deeper understanding of the disease process."
TS is a relatively common neurological disorder characterized by tics--involuntary, rapid, sudden movements or vocalizations that occur repeatedly in the same way. It affects as many as one out of 100 school age children. The tics begin in mid-childhood and peak at the start of adolescence. TS is not life threatening, but affected children commonly have other neuropsychiatric disorders including ADHD, obsessive-compulsive disorder or depression. State said TS patients swearing uncontrollably is actually uncommon, with only a small percentage of TS patients ever having this symptom.
For years, many researchers sought a single, abnormal gene for TS. Since none was found, it was concluded that multiple genes either cause or contribute to the disorder. While many researchers looked for genetic similarities among large groups of TS patients, State and his team took the opposite approach pioneered by co-author and Yales Chair of Genetics, Richard Lifton, M.D., of searching for unusual patients with TS. With help from the Tourette Syndrome Association, they found such a case in which a child had TS and carried a chromosomal abnormality.
Working with Yale neurobiologists and co-authors Nenad Sestan and Angeliki Louvi, the team used molecular methods to identify differences in that childs DNA. In particular, they found one gene expressed in the brain near the chromosomal break point. They compared the gene to a wider TS population of 174 people. The team found an abnormal DNA sequence in one family and the identical, very rare change in the DNA sequence in two unrelated people. This second finding was in a non-coding region of the gene that does not directly make protein.
A lead author on the study, graduate student Kenneth Kwan made the key observation that this segment of the gene was likely to be involved in gene regulation through the interaction with small molecules called microRNAs. In a series of experiments, the research team found that this was indeed the case.
Karen N. Peart | EurekAlert!
The most recent press releases about innovation >>>
Die letzten 5 Focus-News des innovations-reports im Überblick:
Controlling electronic current is essential to modern electronics, as data and signals are transferred by streams of electrons which are controlled at high speed. Demands on transmission speeds are also increasing as technology develops. Scientists from the Chair of Laser Physics and the Chair of Applied Physics at Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU) have succeeded in switching on a current with a desired direction in graphene using a single laser pulse within a femtosecond ¬¬ – a femtosecond corresponds to the millionth part of a billionth of a second. This is more than a thousand times faster compared to the most efficient transistors today.
Graphene is up to the job
At the productronica trade fair in Munich this November, the Fraunhofer Institute for Laser Technology ILT will be presenting Laser-Based Tape-Automated Bonding, LaserTAB for short. The experts from Aachen will be demonstrating how new battery cells and power electronics can be micro-welded more efficiently and precisely than ever before thanks to new optics and robot support.
Fraunhofer ILT from Aachen relies on a clever combination of robotics and a laser scanner with new optics as well as process monitoring, which it has developed...
Plants and algae use the enzyme Rubisco to fix carbon dioxide, removing it from the atmosphere and converting it into biomass. Algae have figured out a way to increase the efficiency of carbon fixation. They gather most of their Rubisco into a ball-shaped microcompartment called the pyrenoid, which they flood with a high local concentration of carbon dioxide. A team of scientists at Princeton University, the Carnegie Institution for Science, Stanford University and the Max Plank Institute of Biochemistry have unravelled the mysteries of how the pyrenoid is assembled. These insights can help to engineer crops that remove more carbon dioxide from the atmosphere while producing more food.
A warming planet
Our brains house extremely complex neuronal circuits, whose detailed structures are still largely unknown. This is especially true for the so-called cerebral cortex of mammals, where among other things vision, thoughts or spatial orientation are being computed. Here the rules by which nerve cells are connected to each other are only partly understood. A team of scientists around Moritz Helmstaedter at the Frankfiurt Max Planck Institute for Brain Research and Helene Schmidt (Humboldt University in Berlin) have now discovered a surprisingly precise nerve cell connectivity pattern in the part of the cerebral cortex that is responsible for orienting the individual animal or human in space.
The researchers report online in Nature (Schmidt et al., 2017. Axonal synapse sorting in medial entorhinal cortex, DOI: 10.1038/nature24005) that synapses in...
New technique promises tunable laser devices
Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...