A single mutated gene can turn sweating completely off

People with a rare disorder called anhidrosis cannot produce sweat, and now a new study finds that the condition may be caused by a mutation in a single gene.

Researchers studied a Pakistani family with several children who could not sweat. The condition can be dangerous because an inability to sweat puts a person at higher risk for heatstroke when temperatures are high.

Anhidrosis can have several causes; for example, it can result from damage to sweat glands caused by trauma or developmental conditions. But the five children in the study, whose parents were relatives, had sweat glands that appeared normal.

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The researchers' analysis of the family members' genomes revealed that a genetic mutation may have caused the condition in this family. The mutation was in a gene, called ITPR2, that controls a basic cellular process in sweat glands, according to the researchers, led by Katsuhiko Mikoshiba, a molecular cell biologist at the RIKEN Brain Science Institute in Japan, and Niklas Dahl, a genetics researcher at Uppsala University in Sweden.

The gene encodes a protein, called InsP3R, that helps calcium ions move into and out of cells, which is essential for many cell functions. The mutation the scientists discovered results in faulty proteins that don't allow cells to release calcium ions.

"The surprise was that a point mutation, not a large deletion, was enough to cause the human disorder," Mikoshiba said in a statement. Point mutations are a change in a single "letter" (such as an A, T, G or C) of a person's genetic code, whereas deletion mutations can involve a larger amount of genetic material being lost.

The researchers also found that mice that lacked the ITPR2 gene sweated markedly less in their paws than their counterparts that had the normal gene, according to the study, which was published Oct. 20 in The Journal of Clinical Investigation.

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Calcium ions are involved in cellular processes ranging from organ development to heart function to saliva production. But the five affected family members in the study do not have any symptoms that might be expected, other than not being able to sweat, the researchers found. For example, they didn't report having dry mouth, the researchers said.

This may mean that the faulty InsP3R protein may have different functions in sweat glands than in salivary glands or other organs, or that other types of this protein may compensate for the faulty one in other organs, the researchers said.

The finding that this protein is involved in anhidrosis could help researchers develop treatments for the opposite problem — excessive sweating, the researchers said.

"Although anhidrosis is quite a rare condition, the 'opposite' phenotype — excess sweating, or hyperhidrosis — is a common problem, affecting 2% of the population" Dahl said. The new findings suggest that a drug that blocks InsP3R could reduce sweat production, the researchers said.

SOURce Mashable

5,000 Ebola health care workers needed in West Africa

A medical worker sprays people being discharged from the Island Clinic Ebola treatment center in Monrovia, Liberia.

More than 5,000 additional health care workers are needed to fight Ebola in the three most affected countries in West Africa, the president of the World Bank said Tuesday.

Jim Yong Kim said he is worried about where those health care workers can be found given the Ebola fear factor. The World Bank president spoke in Ethiopia alongside U.N. Secretary-General Ban Ki-moon and African Union chairwoman Nkosazana Dlamini-Zuma.

Ban said the transmission of the virus continues to outpace the international community's response. He appealed for African Union member states not to impose Ebola-related travel restrictions or close their borders.

"We need to have a steady stream of health care workers from Africa coming into the three affected countries. The head of the U.N. Mission for Ebola Emergency Response, David Nabarro, has told us that we need at least 5,000 health workers from outside the region," Jim said.

"

    Right now, I'm very much worried about where we will find those health care workers.

Right now, I'm very much worried about where we will find those health care workers. With the fear factor going out of control in so many places, I hope health care professionals will understand that when they took their oath to become a health care worker it was precisely for moments like this," he said.

Dlamini-Zuma said African Union states have pledged to send more than 2,000 health care workers into West Africa. She did not say when the workers would arrive.

"The disease, which is not new to the world, and its manifestations in these countries, has caught us by surprise. With the wisdom of hindsight, our responses at all levels — continental, global and national — were slow, and often knee-jerk reactions that did not always help the situation," Dlamini-Zuma said.

Ebola has hit the West African countries of Liberia, Sierra Leone and Guinea the hardest. The outbreak has killed nearly 5,000 people.

SOURCE Mashable