genetics – Lightsources.org

Gene therapy proved against muscular dystrophy with the ALBA synchrotron

2022/08/112022/08/11

A study by the Sant Joan de Déu Research Institute, ICFO, CIBERER and the ALBA Synchrotron has helped demonstrate that gene therapy can reverse the effects of the mutation that causes the symptoms of congenital muscular dystrophy in patient cells. The mutation, which leads to a disorder in the body’s collagen, has been silenced through a genetic editing technique based on the CRISPR/Cas9 system. Experiments at the MISTRAL beamline in ALBA have revealed previously unknown cell damage. Congenital muscular dystrophy is a rare minority disease that mainly affects children and has no treatment.

Congenital muscular dystrophy is a group of rare neuromuscular diseases. In particular, type VI collagen deficiency-related dystrophy affects less than 1 in 100,000 people, has varying degrees of severity, and has no cure.

Read more on the ALBA website

Image: Three-dimensional reconstruction of whole-cell volumes of control- (“healthy cell”), and patient-derived fibroblasts and CRISPR-treated fibroblasts. The different organelles present in the cells can be seen: nucleus in yellow, mitochondria in light blue, endo/lysosomal-like vesicles in violet, and multivesicular bodies in pink.

Identification of a new genetic mutation associated with intellectual disability

2019/01/102019/01/17

Study contributes to the understanding of mechanisms involved in neurodevelopmental disorders

Once a disease-related protein or enzyme is identified as a therapeutic target, the study of its three-dimensional structure – the positions of each of its atoms and their interactions – allows a deeper understanding of its mechanisms of action.

This is possible not only for these substances produced by microorganisms, such as viruses or bacteria, capable of attacking our body. It is also possible, for example, to understand molecules normally produced by the human body itself, but which had their structure and function altered due to some genetic mutation.

Thus, in an article recently published in Nature Chemical Biology, Juliana F. de Oliveira, of the Brazilian Biosciences National Laboratory (LNBio), and collaborators elucidates the mechanism of action of a new genetic mutation in the UBE2A gene identified in patients with intellectual disability.

The UBE2A gene is located on the X chromosome and encodes the protein of the same name that participates in the process of “labeling” defective proteins inside the cell. This labeling is done by adding and protein called ubiquitin to the defective proteins as if it were a label. Next, under normal conditions, the defective proteins are sent for degradation.

Image: Overlap of the patient’s UBE2A protein structure (blue) with the normal protein (gray) evidences similarity between them. On the right, it is shown in detail the only altered amino acid in the patient’s protein due to the genetic mutation.

Scientists work toward new canola varieties

2018/03/132018/03/26

Scientists are in a race against a disease that threatens canola, one of Western Canada’s most important crops, and they are looking to the Canadian Light Source to learn more about the genetic resistance to this disease.

Clubroot causes swelling on the canola roots eventually killing the plant. Finding a way for those roots to resist this soil-borne disease is the cornerstone of the strategy for managing the disease, says Gary Peng, a scientist at Agriculture and Agri-Food Canada’s Saskatoon Research and Development Centre.

“The consequences of clubroot in a canola field can be devastating. It can wipe out the whole crop,” said Peng.

The first case of clubroot in canola was reported in 2003 in several fields in the Edmonton area. The infestation spread rapidly to fields north of the city and the disease is now found in more than 2,000 fields in a wide band across Alberta. In Saskatchewan, it was first detected in 2008, but significant evidence of the disease attacking the roots of canola plants wasn’t identified until 2011, according to the Canola Council of Canada.

High-Speed Movie Aids Scientists Who Design Glowing Molecules

2017/09/202017/10/12

A research team captured ultrafast changes in fluorescent proteins between “dark” and “light” states.

The crystal jellyfish swims off the coast of the Pacific Northwest and can illuminate the waters when disturbed. That glow comes from proteins that absorb energy and then release it as bright flashes.

To track many of life’s activities, biologists took a cue from this same jellyfish.

Scientists collected one of the proteins found in the sea creatures, green fluorescent protein (GFP), and engineered a molecular light switch that would glow or remain dark depending on specific experimental conditions. The glowing labels are attached to molecules in living cells so researchers can highlight them during imaging experiments. They use these fluorescent markers to understand how a cell responds to changes in its environment, identify which molecules interact within a cell and track the effects of genetic mutations.

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Picture: Aequorea victoria, also called the crystal jelly, is a bioluminescent jellyfish that lives near the Pacific coast of North America. (Gary Kavanagh/iStockphoto.com)