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Scientists Discover a Genetic Variant that can Suppress the desire of Drinking Alcohol

A shift from heavy to moderate social drinking could have major public health benefits, such as reduced cardiovascular disease risk

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New York, November 29, 2016: In a step that could lead to development of drugs to regulate alcohol consumption, researchers have identified a gene variant that suppresses the desire for a drink.

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“The findings are based on the largest genome-wide association meta-analysis and replication study to date mapping and comparing the genetics — the DNA — of more than 105,000 light and heavy social drinkers,” said a corresponding author of the study David Mangelsdorf, Chair of Pharmacology at University of Texas Southwestern Medical Center.

“The study identified a variation in the beta-Klotho gene linked to the regulation of social alcohol consumption. The less frequent variant — seen in approximately 40 per cent of the people in this study — is associated with a decreased desire to drink alcohol,” he said.

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Like many complex traits, the genetic influences on brain functions affecting drinking behaviour were thought to be so small that it would be necessary to study large numbers of people in order to detect those genetic variations, Mangelsdorf said.

The study compared the genetics of light and heavy social drinkers of European ancestry participating in nearly four dozen other large population studies worldwide.

The findings, published online in the journal Proceedings of the National Academy of Sciences (PNAS), could lead to development of drugs to help those with drinking problems.

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A shift from heavy to moderate social drinking could have major public health benefits, such as reduced cardiovascular disease risk.

Increased alcohol consumption is linked to two heart disease risk factors in particular — high blood pressure and obesity, according to the American Heart Association. (IANS)

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New Gene Responsible For Rare Genetic Hair Loss Discovered

However, the discovery of the gene already contributes to an improved diagnosis of the rare disease

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New gene for rare genetic hair loss discovered. IANS

Researchers have deciphered a new gene responsible for a rare form of genetic hair loss condition.

Hypotrichosis simplex occurs without other abnormalities. In infancy, fine hair tends to sprout sparsely. With increasing age, hair loss progresses. Ultimately, only a few hair is left on the head and body.

A team of researchers from the University Hospital of Bonn found that changes in the lanosterol synthase (LSS) gene lead to impairment of an important enzyme that has a crucial function in cholesterol metabolism.

However, the cholesterol blood values of those affected are not changed, the finsings showed.

“There is an alternative metabolic pathway for cholesterol, which plays an important role in the hair follicle and is not related to blood cholesterol levels,” said Regina C. Betz from the University’s Institute of Human Genetics.

For the study, reported in the American Journal of Human Genetics, the team examined the coding genes of three families that are not related to each other and are of different ancestry.

A total of eight relatives showed the typical symptoms of hair loss and had mutations in the LSS gene.

There is new hope for bald people to get back hair without going for transplantation as researchers have found that a drug originally developed to treat the bone disease, osteoporosis, stimulates hair growth.
However, the cholesterol blood values of those affected are not changed, the finsings showed, Pixabay

Using tissue samples, the scientists tried to find out exactly where the LSS is located in the hair follicle cells. The hair roots are formed in the follicle.

If the LSS gene is not mutated, the associated enzyme is located in a system of very fine channels in the follicle cells, the endoplasmic reticulum.

If a mutation is present, the lanosterol synthase also spreads outside these channels into the adjacent substance, the cytosol, the scientists observed.

“We are not yet able to say why the hair is falling out,” said lead author Maria-Teresa Romano, a doctoral student from the varsity.

“It is likely that the displacement of LSS from the endoplasmic reticulum results in a malfunction.”

Also Read- Managing Weight During Pregnancy May Affect Child’s Bone Health

“A better understanding of the causes of the disease may in future enable new approaches to the treatment of hair loss,” Romano said, adding that there is still a long way to go.

However, the discovery of the gene already contributes to an improved diagnosis of the rare disease. (IANS)