Thursday November 15, 2018

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
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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 Therapy Wins Big at Portugal’s Champalimaud Foundation

The foundation, which focuses on neuroscience and oncology research at its Lisbon base, was set up at the bequest of Portugal's late industrialist Antonio Champalimaud.

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ean Bennett, Albert Maguire, Robin Ali, James Bainbridge, Samuel Jacobson, T. Michael Redmond and Portugal's President Marcelo Rebelo de Sousa attend the 2018 Antonio Champalimaud Vision Awards ceremony at Champalimaud Foundation in Lisbon, Portugal, VOA

Seven scientists in the United States and Britain who have come up with a revolutionary gene therapy cure for a rare genetic form of childhood blindness won a 1 million euro ($1.15 million) prize Tuesday, Portugal’s Champalimaud Foundation said.

Established in 2006, the annual award for work related to vision is one of the world’s largest science prizes, more than the latest 9 million Swedish crown ($987,000) Nobel Prize in Physiology or Medicine.

“This is the first, and still only, example of successful gene therapy in humans that corrects an inherited genetic defect and is therefore a milestone in medical therapeutics,” said Alfred Sommer, Dean Emeritus of the Johns Hopkins Bloomberg School of Public Health and chairman of the award jury.

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Colour sensitivity can also led to Retinal Diseases/Blindness. Pixabay

One of those honored, Michael Redmond of the National Eye Institute in Maryland, had traced the cause of the disease, Leber congenital amaurosis (LCA), to a mutated gene.

Three cooperating research teams later managed to replace the gene in the eye, restoring vision to treated children and adults with one form of LCA and “enabling the entire field of gene therapy for human disease,” the foundation said.

These teams are comprised of U.S. scientists Jean Bennett and Albert Maguire; Samuel Jacobson and William Hauswirth; and Britons Robin Ali and James Bainbridge.

Also Read: India Aims Towards Highest Level Of Health

Their gene augmentation therapy involved the delivery of healthy genes using engineered harmless viruses, described by the foundation as “an elegant solution.”

The foundation, which focuses on neuroscience and oncology research at its Lisbon base, was set up at the bequest of Portugal’s late industrialist Antonio Champalimaud who died in 2004. The first vision prize was awarded in 2006. (VOA)