Researchers have now discovered that this mutation induces malfunction of an inhibitor of an enzyme commonly found in our body that destroys proteins. Published today in the American Journal of Pathology, this inhibitor is known scientifically as SERPINB6.
Dr Justin Tan of the University of Melbourne and lead author of the study said individuals who lack both copies of this good gene were reported to lose their hearing from 20 years of age.
"This is unusual because most people show gradual signs of age-related hearing loss from 60 years of age onwards but mutations in SERPINB6 accelerate this process. It is not yet clear how this mutation causes hearing loss."
Working with animal models induced with the condition, mice started to lose their hearing at three weeks of age, which is comparable to teenage years in humans. Hearing loss continued to worsen as the mice aged, a trend that was also noticed in humans. When the inner ears of these mice were examined under the microscope, the Melbourne team uncovered that tiny, specialised cells in the inner ear, responsible for hearing, had died.
These cells include, not only the sensory hair cells that detect sound vibrations, but also neighbouring cells that belong to a group of cells called fibrocytes.
Both types of cells are required to transform sound into electrical signals in our hearing nerve. Mutations affecting the sensory hair cells have been known for decades to cause hearing loss in humans but mutations affecting the fibrocytes remain uncommon.
"This is an exciting discovery for our hearing because the role of SERPINB6 as an inhibitor is now being unraveled," said Dr Tan.
Anne Rahilly | EurekAlert!
Two Group A Streptococcus genes linked to 'flesh-eating' bacterial infections
25.09.2017 | University of Maryland
Rainbow colors reveal cell history: Uncovering β-cell heterogeneity
22.09.2017 | DFG-Forschungszentrum für Regenerative Therapien TU Dresden
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...
Whispering gallery mode (WGM) resonators are used to make tiny micro-lasers, sensors, switches, routers and other devices. These tiny structures rely on a...
Using ultrafast flashes of laser and x-ray radiation, scientists at the Max Planck Institute of Quantum Optics (Garching, Germany) took snapshots of the briefest electron motion inside a solid material to date. The electron motion lasted only 750 billionths of the billionth of a second before it fainted, setting a new record of human capability to capture ultrafast processes inside solids!
When x-rays shine onto solid materials or large molecules, an electron is pushed away from its original place near the nucleus of the atom, leaving a hole...
19.09.2017 | Event News
12.09.2017 | Event News
06.09.2017 | Event News
25.09.2017 | Power and Electrical Engineering
25.09.2017 | Health and Medicine
25.09.2017 | Physics and Astronomy