Study finds treatment for blindness causing syndrome

Researchers have found a promising way to develop gene and cell therapies, capable of treating blindness-causing syndrome.

A genetic mutation that leads to a rare, but devastating blindness-causing syndrome has been discovered in monkeys for the first time. The findings offers a promising way to develop gene and cell therapies that could treat the condition in people.

Three  species of monkeys ( rhesus macaques) with a mutated gene that's associated with Bardet-Biedl Syndrome have been discovered, according to a study published in the journal.

It is the first known naturally occurring nonhuman primate model of the syndrome, which is also called BBS.

BBS leads to vision loss, kidney disfunction, extra finger or toes, and other symptoms. It occurs in 1 of 140,000 to 160,000 North American births.

There is no cure for Bardet-Biedl Syndrome today, but having a naturally occurring animal model for the condition could help us find one in the future, said a researcher.

The discover is timely, as gene therapy is already becoming a reality for some with retinal diseases.
In the 1990s, researchers discovered dogs that had a gene mutation linked to a congenital blindness-causing condition called Leber's congenital amaurosis.

The animal model played a key role in helping researchers develop what became the first FDA-approved gene therapy for an inherited disease in December 2018. Neuringer's group also hopes to develop a similar therapy for BBS.

After Neuringer and colleagues discovered two related monkeys without cells that are key to vision, OHSU nonhuman primate genetics experts examined the animals' genomes. They quickly found both monkeys had a mutation of the BBS7 gene, one of at least 14 genes associated with BBS.

Because  the geneticist leads an effort to genetically sequence 2,000 rhesus macaques at the nonhuman primate research centre, they were also able to search the genomes of numerous other monkeys there.

As a result, the team found a third monkey with the same mutation. The third rhesus macaque already had serious vision loss when it was identified in 2018 at age three and a half, although it adapted so well among its social group that the vision loss wasn't obvious.

Neuringer's team is observing the 3rd monkey over time to better understand how the disease progresses in rhesus macaques.

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The Surprising Connection Between Melanin and Hearing

Did you know that white cats are a lot more likely to be deaf? Did you know the odds of the cat being deaf were dramatically exacerbated by having either one or two blue eyes? It’s true: 20% of green-eyed white cats are deaf, 40% of white cats with one blue eye are deaf, and about 75% of blue-eyed white cats are deaf. It doesn’t stop there, as white dogs are also likelier to be deaf, as are white ferrets. Albino animals, too, seem to be disproportionately deaf.

But what does hair or eye color have to do with hearing loss? And can such a connection between hair, skin and eye color be drawn in humans, as well? Looking at medical literature, it certainly seems so.

One particularly well-known congenital disorder that some scientists believe may explain hearing loss in animals is called Waardenburg syndrome, and it affects humans as well. People born with Waardenburg tend to have brilliant blue, wide-set eyes, pale blotches on the skin that may appear like vitiligo, and varying degrees of deafness.

Patient with Waardenburg syndrome, displaying broad nose bridge and wide-set eyes

To assume that Waardenburg is the cause for congenital propensity to deafness would mean that all of the aforementioned animals also have this syndrome and that this syndrome explains everything there is to know about the relationship between color and deafness. But this theory doesn’t quite hold up when put to the test.

Several epidemiological studies into the association of paler skin and hearing loss have come up with some shocking results: black people are roughly 50% less likely to develop hearing loss when compared to white counterparts. Studies specifically targeting whites and blacks whose occupation incorporated increased hazard of hearing loss found much the same thing: whites were more susceptible to hearing loss. Well, considering Waardenburg syndrome affects a mere fraction of society and people of various races, it can’t very well explain this disparity, can it?

But it doesn’t end here. Remember how paler eyes predicted higher chances of deafness among white cats? A 2001 study looking at 130 deaf patients found that the same was true of humans. Of the entire study population, 32 patients had acquired deafness as a result of meningitis and the rest had become deaf due to various other reasons. Among the general deaf population, 73% had pale eyes, compared to 27% with dark eyes, while among the meningitis group, the results were even more dramatic, as 94% of the deaf patients had pale eyes, compared to only 6% with dark eyes.

How about hair color? Does that also figure into risks of hearing loss? According to a 2012 study of military personnel who were exposed to sounds of gunfire, soldiers with blond or light brown hair were significantly more vulnerable to hearing loss compared to fellow combatants with dark hair.

The common thread between paler skin tone, lighter hair color, and green and blue irises is melanin, or more accurately, the lack of it. Melanin is the pigment that is responsible for the color of our skin, our hair, and our eyes, and it is produced in specialized cells called melanocytes. Typically speaking, melanocytes are dispersed equally throughout the body, but some unique conditions (such as Waardenburg) may cause particular areas of the skin or the eyes to have an abnormally low level of melanocytes, causing a striking difference between that area and the rest of the body (nonwhites with blue eyes, for example). But what does all of this have to do with deafness?

Well, we don’t rightly know. We know that all of the color variations presented here are also associated with lack of melanocytes in the inner ear, and can thus surmise that the melanocytes within the ear have an important role in hearing, but we do not know what it is. In the meanwhile, until we manage to figure out the exact mechanism that connects paler complexion to hearing loss, knowing whether you (or ones you hold dear) are in the risk group or not may be able to aid you in avoiding situations that may put your hearing in danger.

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Neuroscience Reveals How Gratitude Literally Rewires Your Brain to Be Happier

We are often advised to be grateful in order to bring positivity in life, but scientists have bow proven that gratitude literally transforms our brain.

A Mindfulness Awareness Research Center explains that by regularly expressing gratitude, one can literally change the molecular structure of the brain, since it will support the function of the gray matter and make us happier and healthier.

Gratitude is the best way to stimulate feelings of happiness, which affect the nervous system and bring positivity and peace. 

The researchers conducted a 10-week study to evaluate the effects of gratitude.

Participants were given one of three tasks, and they all kept a journal each week. The first group was asked to depict things they were grateful for, the second wrote about things that annoyed them, and the last group was asked to write about neutral events. 

Findings showed that participants in the gratitude group felt 25 percent better than the others, and had exercised an average of 1.5 hours more.

Another study involved adults suffering from congenital and adult-onset neuromuscular disorders (NMDs), most of them, suffering from post-polio syndrome (PPS). It found that participants who expressed gratitude felt more refreshed after waking up and felt more connected with others.

Researchers have discovered that people who felt grateful for little, everyday things, were able to make sensible decisions as they were more patient, in comparison to individuals who didn’t feel very gracious on a day-to-day basis. 

A group of  researchers showed that higher levels of gratitude were linked to better sleep, and lower anxiety and depression rates.

To enjoy the benefits of gratitude, follow these practical steps:

• Keep a journal daily, and write down at least three things you are grateful for before you go to sleep
• Every morning, while brushing your teeth, think about something you have done well recently
• Every day, tell your friend or partner something you appreciate about them

Gratitude has countless benefits, and besides a higher happiness set-point, it will also:

• Improve your sleep
• Boost your productivity and creativity
• Help you feel less isolated and more connected
• Boost your energy levels and fight fatigue
• Strengthen your immune system
• Help you experience a deeper relaxation
• Help you look and feel more attractive
• Make it easier to bounce back from difficulty
• Make you feel more confident and stronger
• Improve your emotional equilibrium

THIS IS ONLY FOR INFORMATION, ALWAYS CONSULT YOU PHYSICIAN BEFORE HAVING ANY PARTICULAR FOOD/ MEDICATION/EXERCISE/OTHER REMEDIES.                                    PS- THOSE INTERESTED IN RECIPES ARE FREE TO  VIEW MY BLOG-                                                                                           https://gseasyrecipes.blogspot.com/                                                                                                                                                FOR INFO ABOUT KNEE REPLACEMENT, YOU CAN VIEW MY BLOG-                                                  https:// kneereplacement-stickclub.blogspot.com/                                                                      FOR CROCHET DESIGNS                                                                                                    

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7 things nobody ever tells you about lactose intolerance

As a child, you guzzled litres of milk, but now, a number of years later, you start noticing that dairy doesn't always agree with you.   

For some, however, it's a lot more than a vague, unpleasant feeling and many people experience symptoms like bloating, stomach cramping and diarrhea – all signs of lactose intolerance. 

This is probably the sum total of your knowledge about lactose intolerance. But, to increase your awareness of the problem, here are seven things you may not know about this common digestive ailment:
1. You could be heading towards lactose intolerance 
If you love ice-cream, the following news might be upsetting:  Research shows that about 75% of the world's population lose the ability to break down lactose at some point, which means that many people naturally become lactose intolerant over time. The prevalence of lactose intolerance in South Africa is estimated at 11.03%.
2. Some ethnicities are more likely to develop it than others 
Lactose intolerance is most prevalent among people of East Asian ancestry, affecting more than 90% of adults in some communities, according to the doctors.
The condition is also common in people who are of Jewish, Arab, West African, Greek and Italian descent. On the other hand, people with ancestors from Northern Europe, who consume mostly unfermented milk, have only a 5% rate of lactose intolerance.

3. Lactose intolerance affects everyone differently 
People with lactose intolerance have diverse reactions to consuming the offending dairy products. Tiny amounts of lactose may cause intense symptoms such as abdominal cramps and diarrhea in some, while other might only experience gas.
It's not entirely clear why symptoms vary so much from person to person – it might, however, have something to do with individuals' gut bacteria.

4. Certain types of cheese and yogurt may not trigger the disorder
In many cases, being lactose intolerant doesn't mean you have to say goodbye to the goodness that is dairy. While some people cannot digest much of it, others have no trouble digesting yoghurt, which contains fermented milk, or cheeses such as Parmesan or cheddar. Those cheeses are aged and contain only trace amounts of lactose, making it easier to digest for those with an intolerance.
Here is an easy way to tell which cheeses have low lactose levels: Check the nutrition label. Since lactose is the sugar found in milk, the fewer grams of sugar on the label, the higher your chances of being to digest the product.

5. The symptoms waste no time 
The symptoms of lactose intolerance usually occur within 30 minutes to two hours after consuming milk-based products. The more milk products you ingest, the worse you will feel.

6. Babies can be lactose intolerant 
There have been cases of babies being born lactose intolerant. This happens when the baby has a mutation of the LCT gene, which normally delivers instructions for making that key enzyme. This results in the baby's small intestine producing little to no lactase, making dairy "complicated". 

According to the doctors, children can inherit genes that cause congenital lactose intolerance from their parents. However, it's extremely rare for babies to have this condition. 


7. You might be able to build up your tolerance 
While it does sound like an unpleasant experiment for anyone with lactose intolerance, studies argue that consuming small amounts of milk on a full stomach two to three times a day can help to recondition your digestive system to break down dairy without discomfort. 

However, if your small intestine does not make enough lactase, it will not suddenly start to do so. You should experiment and find out what works best for you instead of cutting dairy out completely. 

THIS IS ONLY FOR INFORMATION, ALWAYS CONSULT YOU PHYSICIAN BEFORE HAVING ANY PARTICULAR FOOD/ MEDICATION/EXERCISE/OTHER REMEDIES.                                                                                                                                                                                                                                                                                        PS- THOSE INTERESTED IN RECIPES ARE FREE TO  VIEW MY BLOG-                                                                                           https://gseasyrecipes.blogspot.com/                                                                                                                                                                             FOR INFO ABOUT KNEE REPLACEMENT, YOU CAN VIEW MY BLOG-                                                                                                                             https:// kneereplacement-stickclub.blogspot.com/                                                                                       FOR CROCHET DESIGNS                                                                                                                                                                                                                                 https://gscrochetdesigns.blogspot.com