Tuesday March 19, 2019

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)

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Gene Triggering Antibiotic Reaction Risk Identified, Says Study

"This observation also represents significant progress as we zero in on the mechanisms of these life-threatening immune-mediated drug reactions,"

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The study modified the levels of the protein encoded by a single gene known as GPR39.  Pixabay

Researchers have identified a gene that increases the risk of a severe and potentially life-threatening reaction to the commonly prescribed antibiotic vancomycin.

Vancomycin, used to treat serious and life-threatening bacterial infections, has been known to be a common antibiotic trigger for a severe reaction known as DRESS — Drug Rash with Eosinophilia and Systemic Symptoms.

The genetic risk factors predisposing specific patients were not known yet.

The new study, led by researchers from the Vanderbilt University in the US, showed that vancomycin triggers DRESS only in people carrying specific variations in human leukocyte antigen (HLA) genes.

DRESS has been characterised by fever, widespread skin rash and internal organ damage.

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Gene triggering antibiotic reaction risk identified. Pixabay

Routine testing for HLA gene could improve patient safety and reduce unnecessary avoidance of other antibiotics, said the study published in the Journal of Allergy and Clinical Immunology.

Since many patients who develop DRESS are often exposed to multiple antibiotics and other drugs simultaneously, the team used a specific diagnostic test developed in their laboratories called gamma-interferon ELISpot.

ELISpot exposed patients’ white blood cells to vancomycin and other concurrently administered antibiotics.This test enabled them to determine which drug was most likely causing DRESS.

Also Read- A Nap During The Day Can Lower High BP: Study

“This test will be important in the clinical care of patients starting vancomycin and will prevent mortality and short and long-term complications,” said Elizabeth Phillips, researcher at the varsity.

“This observation also represents significant progress as we zero in on the mechanisms of these life-threatening immune-mediated drug reactions,” she said. (IANS)