A number of previous studies have found that the roughly 400 olfactory genes present in the human body are sometimes expressed beyond the nose, posing an interesting question for researchers involved in the field of genetics. Now, a study published in Molecular Systems Biology has shown that patients with colon cancer whose cells exhibit the...
by University of California – San Diego Danon disease is a very rare, life-threatening condition where the fundamental biological process of removing and recycling proteins does not work. This impairment results in dysfunction of the heart, skeletal muscle, neurologic system, eyes, and liver. Most patients die or require heart transplants by the third decade of...
by Centro Nacional de Investigaciones Cardiovasculares Carlos III (F.S.P.) Researchers at the Centro Nacional de Investigaciones Cardiovasculares (CNIC), working with an international network of scientists, have identified an inflammatory regulatory circuit in the eye controlled by a subtype of endothelial cell, those that line the interior of blood vessels. The discovery was made by analyzing...
by University of Sheffield A new ‘toolkit’ to repair damaged DNA that can lead to ageing, cancer and Motor Neurone Disease (MND) has been discovered by scientists at the Universities of Sheffield and Oxford. Published in Nature Communications, the research shows that a protein called TEX264, together with other enzymes, is able to recognise and...
A long-disdained therapy that targets RNA is suddenly achieving spectacular success By Lydia Denworth | Scientific American March 2020 Issue Antisense oligonucleotides (ASOs) are short strings of chemically modified DNA or RNA that are designed to home in on RNA strands to alter the proteins the body ultimately produces. After decades of struggling to get...
UNIVERSITY OF BARCELONA A research team has described five new cases of a rare disease -known as KAT6A syndrome- of which there are only eighty dominant cases worldwide. This neurological and developmental disorder, caused by alterations in the lysine acetyltransferase 6A gene (KAT6A), involves intellectual disability, language impairment, low muscle tone, cardiovascular malformation and eye...
Neurodegenerative diseases, like Huntington’s disease and myotonic dystrophy, are often referred to as DNA repeat diseases, named because of long repeated sequences in the DNA of patients. Increasing repeat expansion length in the affected tissues contribute to earlier age of disease onset and worsen the progression and severity of the disease over time. Graphic portrays...
Scientists at Dongguk University successfully treated Alzheimer’s disease in mice using the gene-editing tool CRISPR-Cas9. They used the tool to edit out the Alzheimer’s causing gene in the mice, thereby improving their memory and other cognitive functions. While this is only a first step and much research remains to be done, these promising results put...
Researchers at Karolinska Institutet in Sweden and the University of Milan in Italy have identified a gene in human neurons that protects against the degeneration of motor neurons in the deadly diseases ALS and SMA. Gene therapy in animal models of these diseases was shown to protect against cell death and increase life expectancy. The...
Scientist identifies new areas in human genomes linked to risk INDIANA UNIVERSITY SCHOOL OF MEDICINE INDIANAPOLIS — An Indiana University cancer researcher has identified eight new genomic regions that increase a person’s risk for skin cancer. Jiali Han, Ph.D., and colleagues discovered eight new loci–locations on a person’s genome–that are susceptible to the development of...
