Tag: mutation

Mutant Butterflies Near Fukushima Linked to Nuclear Radiation

By Veronique Greenwood | August 15, 2012 10:55 am

mutant
A mutated butterfly

Japanese authorities may have cleared out the human population around the ruined Fukushima Daiichi nuclear power plant, but the native wildlife is still there. A month after the accident, scientists who study the pale grass blue butterfly collected 144 near the plant, and found that they had begun to show mutations like dented eyes and deformed wings.

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CATEGORIZED UNDER: Environment

Promising Cystic Fibrosis Drug Targets the Cause, Not the Symptoms

By Andrew Moseman | February 25, 2011 4:50 pm

A study of an experimental drug from the company Vertex, called VX-770, successfully reduced lung problems in CF patients, and the company hopes to try for approval of the drug later this year. If all goes well, doctors may soon have their first drug to treat the cause of this devastating disease, instead of just combatting the symptoms.

Cystic fibrosis is a genetic disease that impairs lung and digestive function. In particular, the normally thin layer of mucus in the lungs thickens up and impairs breathing; this happens because patients have a faulty version of a protein that helps clear mucus.

About 1800 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene have been implicated in the disease. The gene encodes a molecular channel that shuttles chloride ions across cellular membranes, and people with two mutated copies develop mucus-filled lungs susceptible to infection. Few patients live to see their 30s. In 1989, CF became the first disease pinned to a specific gene mutation, without the benefit of knowing the protein first. [Nature]

This newest test was a Phase III trail of Vertex’s drug, which was funded in part by the Cystic Fibrosis Foundation. The treatment goes after one major genetic mutations that causes the disease, called G551.

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CATEGORIZED UNDER: Health & Medicine

Rare Form of Dwarfism May Protect Against Diabetes & Cancer

By Andrew Moseman | February 17, 2011 4:46 pm


They’re about three and a half feet tall and their origins are mysterious, but an isolated group of Ecuadorians with a genetic mutation causing dwarfism are making news for another reason: They hardly ever get cancer or diabetes. Medical researchers say the villagers’ genetic protection from these diseases could lead to preventative treatments for the general population–and could therefore increase human longevity.

The villagers’ condition is called Laron syndrome, which is caused by an insensitivity to growth hormone.

Laron syndrome results from a mutation in the gene that codes for growth hormone receptor (GHR), a protein that binds with the human growth hormone and ultimately results in the production of the insulin-like growth factor 1 (IGF1), causing cells to grow and divide. When a person has two of these mutated and non-working genes, they can develop the disease. [LiveScience]

Jaime Guevara-Aguirre, the leader of the study about the Ecuadorians appearing in Science Translational Medicine, has been looking into their condition and extraordinary resistance to age-related diseases for more than two decades, since his serendipitous discovery of the people while riding horseback in Ecuador.

“I discovered the population in 1987,” Dr. Guevara-Aguirre said in an interview from Ecuador. “In 1994, I noticed these patients were not having cancer, compared with their relatives. People told me they are too few people to make any assumption. People said, ‘You have to wait 10 years,’ so I waited. No one believed me until I got to Valter Longo in 2005.” [The New York Times]

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CATEGORIZED UNDER: Health & Medicine
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