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Advance in tuberous sclerosis brain science

By Guest PostJune 19, 2013Healthautism, behavioral symptoms, bettina voelcker, brain science, brown university, catherine browning, catherine thorne, diagnose, disease causing mutations, elizabeth normand, emily murphy, healthy, intellectual disabilities, mark zervas, mice, mtor, mtor pathway, mutant neurons, seizures, shane crandall, thalamic neurons, thalamus, thalamus cells, threshold, tsc, tsc like symptoms, tsc1, tuberous sclerosis, tuberous sclerosis complex

By manipulating the timing of disease-causing mutations in the brains of developing mice, Brown University researchers have found that early genetic deletions in the thalamus may play an important role in course and severity of the developmental disease tuberous sclerosis complex. Findings appear in the journal Neuron.

PROVIDENCE, R.I. [Brown University] — Doctors often diagnose tuberous sclerosis complex (TSC) based on the abnormal growths the genetic disease causes in organs around the body. Those overt anatomical structures, however, belie the microscopic and mysterious neurological differences behind the disease’s troublesome behavioral symptoms: autism, intellectual disabilities, and seizures. In a new study in mice, Brown University researchers highlight a role for a brain region called the thalamus and show that the timing of gene mutation during thalamus development makes a huge difference in the severity of the disease. (more…)

Study of the machinery of cells reveals clues to neurological disorder

By Guest PostMay 16, 2013Sciencebiogenesis, cell, charcot, common neurological disorder, crop plants, cross talk, disease causing mutations, embo reports, energy factories, eth zurich, fatty acids, fragmentation of mitochondria, function, humans, kate mcintosh, marie, metabolism, michael schrader, mitochondria, organelles, organelles peroxisomes, peroxisomal division, peroxisomes, reactive oxygen species, researcher, sofia guimaraes, symptoms, tooth disease, touch sensation, uk, university of exeter, yeast

Investigation by researchers from the University of Exeter and ETH Zurich has shed new light on a protein which is linked to a common neurological disorder called Charcot-Marie-Tooth disease.

The team has discovered that a protein previously identified on mitochondria – the energy factories of the cell – is also found on the fat-metabolising organelles peroxisomes, suggesting a closer link between the two organelles.

Charcot-Marie-Tooth disease is currently incurable and affects around one in every 2,500 people in the UK, meaning that it is one of the most common inherited neurological disorders, thus understanding the molecular basis of the disease is of great importance. Symptoms can range from tremors and loss of touch sensation in the feet and legs to difficulties with breathing, swallowing, speaking, hearing and vision. (more…)

Engineered Flies Spill Secret of Seizures

By Guest PostOctober 15, 2012Healthdisease causing mutations, disease mutation, engineered flies, febrile epileptic seizures, febrile seizures, homologous recombination, secret of seizures

Scientists have observed the neurological mechanism behind temperature-dependent — febrile — seizures by genetically engineering fruit flies to harbor a mutation analogous to one that causes epileptic seizures in people. In addition to contributing the insight on epilepsy, their new study highlights the first use of genetic engineering to swap a human genetic disease mutation into a directly analogous gene in a fly.

PROVIDENCE, R.I. [Brown University] — In a newly reported set of experiments that show the value of a particularly precise but difficult genetic engineering technique, researchers at Brown University and the University of California–Irvine have created a Drosophila fruit fly model of epilepsy to discern the mechanism by which temperature-dependent seizures happen. (more…)

Tag Archives: disease causing mutations

Advance in tuberous sclerosis brain science

Study of the machinery of cells reveals clues to neurological disorder

Engineered Flies Spill Secret of Seizures