Tuesday July 23, 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.”

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“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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Researchers Identify Gene Associated with Sudden Death in Epilepsy

The researchers observed the mice with Dravet syndrome had bad seizures that became more severe when the mice got hot, exactly like humans with Dravet syndrome

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Structure of brain can help find the causes behind epilepsy.
Structure of brain can help find the causes behind epilepsy.

Researchers have identified a gene associated with sudden death in epilepsy.

Usually, it is believed that the patient had a seizure that killed them. But seizures happen in the cortex, the top of the brain and life-sustaining processes like breathing are controlled somewhere else entirely — the brainstem, the very bottom part of the brain that connects to the spinal cord.

In a study, published in the scientific journal ‘eLife’, the researchers from the University of Connecticut tried to figure out if there was a genetic basis for sudden unexpected death in epilepsy (SUDEP). They tried to understand if the same genetic mutation that causes the seizures also disrupts the cells in the brainstem that control breathing.

For the study, researchers raised mice with the human mutation for a severe form of epilepsy called Dravet syndrome, which is caused by mutations in a gene that shapes the channels through which sodium moves in and out of cells in the brain. If the sodium channels don’t function properly, cells can get overexcited. One cell’s over-excitement can travel through the brain like hysteria through a crowded stadium, stampeding into a seizure.

The gene mutated in the Dravet syndrome is called the sodium channel gene 1a or ‘Scn1a’. It’s considered a super-culprit for epilepsy, with more than 1,200 different Scn1a mutations identified.

The severity of epilepsy caused by Scn1a depends on whether the mutation causes partial or complete loss of the sodium channel’s function.

People with Dravet syndrome tend to have dramatic seizures, exacerbated by hot weather and the syndrome is very hard to control with anti-epileptic medications.

Epilepsy drug in pregnant women may increase oral cleft risk in baby
Epilepsy drug in pregnant women may increase oral cleft risk in baby. Wikimedia Commons

The study’s findings showed that Scn1a mutation makes the sodium channels less active. Instead of making cells overactive, it makes them underactive.

This mutation mostly affects inhibitory cells or cells in charge of calming the brain down.

To understand how this might lead to the patients’ sudden death, the researchers tested whether the mice with the Dravet syndrome mutation show breathing problems and die prematurely of SUDEP and also, whether the cells in the part of the mice’s brainstem that controls breathing were normal or were somehow perturbed by the mutation.

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The researchers observed the mice with Dravet syndrome had bad seizures that became more severe when the mice got hot, exactly like humans with Dravet syndrome.

They also found that mice with Dravet Syndrome had a breathing disorder. They tended to hyperventilate (breathe too little) for no apparent reason sometimes. Other times they would have long apneas or pauses between breaths. And these mice didn’t breathe more in response to high carbon dioxide levels in the air, the way humans and normal mice do.

“We felt really good that our model was reflecting the human condition,” noted Dan Mulkey, a neuroscientist from the University of Connecticut. (IANS)