News tagged with defective genes
Defective cellular waste removal explains why Gaucher patients often develop Parkinson's disease
Gaucher disease causes debilitating and sometimes fatal neurodegeneration in early childhood. Recent studies have uncovered a link between the mutations responsible for Gaucher disease and an increased risk ...
Parkinson's & Movement disorders
May 23, 2013 |
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Study puts Huntington's disease trials on TRACK
(Medical Xpress)—A three-year multinational study has tracked and detailed the progression of Huntington's disease (HD), predicting clinical decline in people carrying the HD gene more than 10 years before ...
Neuroscience
May 21, 2013 |
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Study brings greater understanding of tumor growth mechanism
A study led by researchers from Plymouth University Peninsula Schools of Medicine and Dentistry has for the first time revealed how the loss of a particular tumour suppressing protein leads to the abnormal growth of tumours ...
Neuroscience
May 16, 2013 |
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Research finds spontaneous mutations are major cause of congenital heart disease
Every year, thousands of babies are born with severely malformed hearts, disorders known collectively as congenital heart disease. Many of these defects can be repaired though surgery, but researchers don't understand what ...
Cardiology
May 12, 2013 |
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Viral Vectors delivery new calcium pumps for ailing hearts
(Medical Xpress)—A fresh round of trials to evaluate gene therapy for the heart is set to begin in a couple of weeks. The British Heart Foundation will be sponsoring the study, which seeks to replace defective ...
Medical research
May 01, 2013 |
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Scientists discover gene mutation that causes children to be born without spleen
The spleen is rarely noticed, until it is missing. In children born without this organ, that doesn't happen until they become sick with life-threatening bacterial infections. An international team of researchers led by scientists ...
Genetics
Apr 11, 2013 |
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Neuroscientists show 'jumping genes' may contribute to aging-related brain defects
As the body ages, the physical effects are notable; wrinkles in the skin appear, physical exertion becomes harder. But there are also less visible processes going on. Inside aging brains there is another phenomenon at work, ...
Neuroscience
Apr 08, 2013 |
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Researchers identify mutation that causes short-sightedness and hearing loss
(Medical Xpress)—Researchers have identified a new disorder caused by a genetic mutation that leads to short sightedness and deafness. They say the new link between the two sensory problems could lead to ...
Genetics
Apr 08, 2013 |
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Researchers discover that errors in RNA splicing lead to a class of neurological disorders
(Medical Xpress)—Researchers have found that missteps in a basic cellular process, RNA splicing, is the culprit behind a class of rare neurological disorders manifested by intellectual disability and stunted development.
Genetics
Mar 29, 2013 |
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Learning from Lassa virus: Researchers discover gene mutations that can result in a congenital disorder
(Medical Xpress)—Researchers have known that two seemingly distant human maladies—a devastating set of hereditary disorders called Walker-Warburg syndrome and infection with the virus that causes hemorrhagic ...
Medical research
Mar 22, 2013 |
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Folate and vitamin B12 reduce disabling schizophrenia symptoms in some patients
Adding the dietary supplements folate and vitamin B12 to treatment with antipsychotic medication improved a core symptom component of schizophrenia in a study of more than 100 patients. The study focused on negative symptoms ...
Psychology & Psychiatry
Mar 06, 2013 |
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Discovery of human genetic mutation could lead to new treatments for type 1 diabetes
In type 1 diabetes, the immune system destroys insulin-producing cells in the pancreas, but the precise cause has not been clear. A study published by Cell Press on March 5th in Cell Metabolism reveals that a ...
Genetics
Mar 05, 2013 |
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Researcher advancing motor neuron studies
A University of Connecticut researcher is advancing the understanding of the devastating inherited condition known as spinal muscular atrophy.
Neuroscience
Jan 29, 2013 |
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Lack of key enzyme in the metabolism of folic acid leads to birth defects
Researchers at The University of Texas at Austin have discovered that the lack of a critical enzyme in the folic acid metabolic pathway leads to neural tube birth defects in developing embryos.
Medical research
Jan 17, 2013 |
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Cell loss in the brain relates to variations in individual symptoms in Huntington's disease
Scientists have wrestled to understand why Huntington's disease, which is caused by a single gene mutation, can produce such variable symptoms. An authoritative review by a group of leading experts summarizes the progress ...
Neuroscience
Jan 07, 2013 |
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