Intellectual disabilities share disease mechanisms, study suggests

Original post from Medical News Today


Research suggests that different types of intellectual disabilities may benefit from common therapeutic approaches.

Brain disorders that cause intellectual disabilities and autism spectrum disorders may share common defects despite having different genetic causes, a study has found.

A study of two models of intellectual disability in mice has found that they share similar disease mechanisms.

Researchers found that treatment with a statin drug called Lovastatin – commonly used to treat high cholesterol – can correct high levels of protein production in the brain linked to the conditions.

The findings suggest that different types of intellectual disabilities may benefit from common therapeutic approaches, the researchers say.

Studies of people with learning disabilities have identified a wide range of genetic causes. Around a third of people affected also have symptoms of autism spectrum disorders, suggesting that the mechanisms underlying these conditions may be shared.

Researchers at the University of Edinburgh studied mice with a genetic mutation that means they produce lower levels of a protein called SynGAP. The mice show learning and behavioural difficulties and act as a model system to understand why people with mutations in the human version of the gene suffer from intellectual disability.

The team from the University’s Patrick Wild Centre and Centre for Integrative Physiology found that treatment with Lovastatin normalised levels of protein production in the brains of the mice. Their results suggest that Lovastatin acts by reducing levels of the active form of a protein called ERK1/2.

They compared their findings with mice that lack a protein called FMRP, which also causes cellular and behavioural changes that can be rescued with Lovastatin. Loss of FMRP in people leads to Fragile X Syndrome, the most common inherited form of intellectual disability and autism.

Further research is needed to determine whether the treatment can restore learning and development in people.

The study is published in the Journal of Neuroscience. It was funded by the Medical Research Council, the Biotechnology and Biological Sciences Research Council and the Patrick Wild Centre.

Professor David Wyllie, Director of the University of Edinburgh’s Centre for Integrative Physiology, said: “This study shows that the core deficits associated with two very different causes of intellectual disability are shared. This is important because it means that people with diverse types of intellectual disability or autism may benefit from the same treatment.”

Professor Peter Kind, Director of the University of Edinburgh’s Patrick Wild Centre for Research into Autism, Fragile X Syndrome and Intellectual Disabilities, said: “Statins, such as lovastatin, are already used widely for treating people, including children, for high cholesterol with minimal side effects. Further studies are needed to determine whether these existing medications could also help people with intellectual disabilities.”

Adapted by MNT from original media release

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Could a2 Milk Solve Lactose Intolerance Symptoms For Some?

Original post from NBC News


A new of brand of milk arrives at some California grocery stores this month as its makers pin their market hopes on a controversial theory that one tiny protein may be the culprit behind some people’s dairy-induced tummy troubles.

The beverage is called a2 Milk — a direct nod to a single protein, called A2, now fueling scientific debate.

Pasteurized and free of growth hormones and antibiotics, a2 Milk already is filling the glasses of folks in New Zealand, Britain and Australia. It doesn’t taste any different or pack any more nutritional punch than the cow’s milk in your refrigerator, say its makers, the a2 Milk Company, based in New Zealand.

But the product does contain the A2 protein. And some research suggests A2 is beneficial for people who feel queasy and bloated after drinking dairy, but who aren’t truly lactose intolerant. In fact, the inclusion of that particular protein makes a2 Milk resemble, chemically speaking, the cow’s milk people were drinking many centuries ago.

The company contends that it’s not lactose that gives some people dairy-related digestive issues — rather, it’s yet another protein called A1 that’s typically present in store-bought milk.

1 emerged thousands of years ago due to a natural genetic mutation within European dairy herds, said Andrew Clarke, chief scientific officer at the a2 Milk Company Other mammals, including female humans (think breast milk), produce milk containing only the A2 protein.

Because that DNA mutation was associated with high-milk producing breeds, A1 spread throughout cows in Europe and the United States. Today, dairy herds in the U.S. and Europe, among others, are generally comprised of cows that carry both the A1 and A2 proteins, though some cows may be purely A1 and others purely A2.

The so-called “old world cows,” namely those in Africa and Asia, continue to produce only the A2 protein, said Clarke. All milk sold by The a2 Milk Company, which developed a DNA test, is certified as being from cows that only produce A2.

During the past two decades, there’s been some research focusing on the health effects of A1 and A2. But it’s within those findings that the story starts to get a little curdled.

Some of this population-based or animal research suggests that consumption of milk with A1 is tied to the development of diabetes and heart disease, among other ills. That assertion sparked a firestorm of interest — and controversy — leading the European Food Safety Authority to release a 2009 report stating “a cause and effect relationship” between consumption of A1 and non-communicable diseases was not established.

The first peer-reviewed, double-blind, randomized human trial examining A1 versus A2 was published in the European Journal of Clinical Nutrition last year.

Researchers found those on A2 reported less bloating, less abdominal pain, and firmer stools. However, only a small portion of study’s 36 participants described themselves as being intolerant to milk before the study began. Within that subgroup of eight people, researchers also were able to show differences in bloating, pain, gas and voiding difficulty, said lead author Sebely Pal of Australia’s Curtin University.

But that tiny sample size was “insufficient to show statistical significance,” or to offer conclusive proof, Pal added.

The next step in cracking this scientific riddle: a digestion study that involves recruiting more participants who self-define themselves as being intolerant to milk, Pal said.

At this point in the debate, many nutrition experts say the science is too preliminary to jump on the A2 bandwagon.

“The data (of the human trial) is equivocal and self-reported data always me nervous,” said Greg Miller, chief science officer for the National Dairy Council. “The sample size is small, and I don’t find it compelling in any way.”

“This theory (A1 vs A2) has been around a long time,” adds Madelyn Fernstrom, health and nutrition editor for NBC News and TODAY. “But there’s no real proof that one is better than the other. There needs to be a lot more work done on this.”

However, that little A2 protein isn’t going to hurt you. “I’m all for milk or dairy products, except for raw ones,” Fernstrom said. “I don’t see any harm in giving it a try if you have some issue with digesting dairy. Who knows? It could potentially be easier for you to digest — or not.”

This new brand, a2 Milk, will arrive at some California grocery stores this month. Makers contend its chemical makeup, containing a protein called A2, may allow some people to again drink milk without belly-disrupting symptoms.

While dairy has always been the darling of dietitians, U.S. consumers are drinking less milk in favor of other beverages.

But low-fat or fat-free dairy provides a lot of vital nutrients, including calcium, potassium, vitamin D, and protein. It’s this nutrient profile that too many people are missing, said registered dietitian Bonnie Johnson, a2 Milk’s U.S. Nutrition Director and a 20-year veteran of the dairy industry.

“A lot of people believe they are lactose intolerant but have never been tested, and have stopped drinking milk,” Johnson said. “They may simply be having a hard time with the A1 protein and they’re missing out on some really good nutrition.”

If you are lactose intolerant or have a cow-milk allergy, a2 Milk isn’t for you. That’s because a2 Milk isn’t medicine, it’s milk, and it will sell for $4.50 per half gallon (whole, reduced fat, low fat, and fat-free) at Whole Foods and Ralphs stores in California as well as at some independent California grocers. If a2 Milk catches on, the company hopes to go nationwide.