Lymphatic disorder may cause stillbirth, chronic disease in affected children

In a breakthrough discovery, South Australian researchers have identified a genetic mutation responsible for a lymphatic disorder that may be responsible for causing stillbirth or severe, chronic disease in affected children.

The findings were published in the journal 'Science Translational Medicine'.

An anomaly in the development of lymphatic vessels in unborn children, leading to fluid accumulating in the heart, lungs, and other organs, was uncovered by the scientists from the Centre for Cancer Biology (CCB) based at the University of South Australia (UniSA) and SA Pathology.

CCB Director Professor Natasha Harvey said a genetic study of six families affected by stillbirth or lymphoedema revealed the link between a mutated protein-coding gene called MDFIC and fluid accumulation in vital organs and tissues.

This demonstrated that MFDIC is important for controlling the growth and development of the lymphatic vessels in the foetus for the first time.

"The lymphatic system is a network of vessels (pipes) and nodes (filters and control centres) important for maintaining fluid balance in our tissues and transporting infection-fighting white blood cells throughout our bodies," Prof Harvey said.

"We determined that MDFIC controls cell migration, an important early event during the formation of the lymphatic vessel valves. The genetic variants we have found in our study reveal a crucial, previously unrecognized role for MDFIC in the lymphatic vasculature."

"If the lymphatic valves don't form properly, lymph fluid accumulates in critical organs such as the heart and lungs, causing major respiratory problems that may eventuate in stillbirth or chronic disease."

An SA Pathology research team headed by Professor Hamish Scott initially found the genetic link in an Australian family. Their international colleagues in Belgium, Germany, and the US reported variants in the same gene, MDFIC, in several patients with the same lymphatic disorder.

Prof Harvey said, the disorder, known as the central conducting lymphatic anomaly (CCLA), is one of a group of severe lymphatic disorders and may result in stillbirth, or severe chronic disease in affected children.

Few effective treatments are available but with continued identification of the genetic causes of CCLAs, Prof Harvey says the next step is to develop new therapeutic drugs to combat the disease.

"There are existing drugs that may be used to treat these disorders, but we need to make sure that the signalling pathway that's treated by those drugs is the same pathway that is affected in our patients.

"This project is about the power of collaboration at a local level, national level, and international level, so that's been really important. Science is done in teams and we have great research teams here in Adelaide at the Centre for Cancer Biology. Our Ph.D. students and postdoctoral fellows have been integral to this work. They have really driven it and we're delighted to be working with such a group of talented people."

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A protein in your brain can be your weapon against Alzheimer’s disease

Researchers have found that a protein that regulates white blood cells in the human brain could protect against Alzheimer’s disease.

The results  suggest that this protein, called CD33, could have important implications in the fight against Alzheimer’s disease.

“Immune cells in the brain, called microglia, play a critical role in Alzheimer’s disease,” explained  co-author of the study.

“They can be harmful or protective. Swaying microglia from a harmful to protective state could be the key to treating the disease,” the author added. Scientists have identified the CD33 protein as a factor that may decrease a person’s likelihood of this disease.

Now, this research has shown that the most common type of CD33 protein plays a crucial role in modulating the function of microglia. “The fact that CD33 is found on microglia suggests that immune cells can protect the brain from Alzheimer’s disease under the right circumstances,” said the  first author of the study.

Alzheimer’s disease affects more than 44 million people around the world. “These findings set the stage for future testing of a causal relationship between CD33 and Alzheimer’s Disease, as well as testing therapeutic strategies to sway microglia from harmful to protecting against the disease – by targeting CD33,” said the researcher.

“Microglia have the potential to ‘clean up’ the neurodegenerative plaques, through a process called phagocytosis — so a therapy to harness this ability to slow down or reverse this mental health disorder can be envisioned,” he said.


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The Proven Health Benefits of Vitamin C

There is a stereotype that vitamin C is only beneficial for preventing the flu, which is why we usually start supplementing it and eating more foods that contain vitamin C  during flu season. But recent research shows that there is no relationship between vitamin C and cold prevention, which may falsely render vitamin C useless for the average consumer.

In this article, we would like to stress the importance of meeting your daily value of vitamin C by highlighting all the important functions and health benefits it provides for the body. Although vitamin C may not protect you from the flu, it can do wonders for your immune system, heart, skin, and the nervous system.

These are some of the scientifically proven health benefits of vitamin C:

1. Slows Down Cognitive Decline

Even short-term vitamin C deficiency is famously associated with brain fog and memory problems, and scientists believe this is due to oxidative stress of your central nervous system. Vitamin C belongs to the class of chemicals called antioxidants, the major role of which is to prevent oxidative stress.

In fact, vitamin C is one of the most powerful antioxidants known, and luckily, one of the most common ones. Furthermore, it was found that people who suffer from memory problems and dementia often have low levels of vitamin C in their blood, which further accentuates the crucial role of this vitamin for our memory and thinking. 

2. Boosts Collagen

You may be familiar with collagen production if you have an interest in anti-aging skin care, as this compound gives our skin a youthful bounce and tautness. In fact, the older we get, the less collagen our skin produces, and so we get wrinkles. But collagen is important for more than just skin health, it plays a significant role in healing our bones, cartilage, and skin, which is also why you might find that with age, your wounds may heal slower.

Vitamin C is one of the few compounds in the body that can boost collagen production, which is why it is a key ingredient in many anti-aging skin care products and the doctor may prescribe you with a vitamin C supplement after traumatic injuries.

3. Prevents Heart Disease

The recommended amount of vitamin C you should consume every day is 500 mg a day, which is equal to about 1 glass of orange juice or a ½ cup of fresh red bell peppers. Those who meet this daily value have been found in several studies to have a lower risk of heart disease, lower blood pressure and lower levels of bad cholesterol.
One study even found that people with the highest blood concentrations of vitamin C were 42% less likely to get a stroke than those with lower-than-normal levels. And it didn’t matter if they got their vitamin C from a supplement or food either. 

4. Helps You Avoid Complications of a Cold

Eating more vitamin C during flu season may not protect you from a cold, but it may lower your risk of developing complications even if you end up getting the flu. Don’t rush to the pharmacy for a supplement just yet, though, as too much vitamin C may cause some side effects, such as nausea and diarrhea.

Instead, most medical professionals and nutritionists agree that it’s best to get your vitamin C from food, especially since it’s quite easy, as so many different foods contain this vitamin.

5. Prevents Gout Attacks

Gout is a very painful condition that affects around 4% of people in the world. It’s a type of rheumatoid arthritis, and the inflammation in the joints, most commonly in the extremities, is caused by uric acid crystals forming in the joints and causing excruciating pain attacks. These crystals form when there is too much uric acid in the blood, and the body tries to get rid of it by depositing it in your joints and muscles.

One way to lower the level of uric acid in the blood, thus preventing gout and the pain that comes with it is by, you guessed it, consuming enough vitamin C. A 20 year long study that looked at more than 50.000 participants even showed that high vitamin C levels were associated with a 44% lower chance of developing gout.

6. Prevents Iron Deficiency

Iron deficiency is a common and very dangerous condition, which can ultimately lead to a disease called iron deficiency anemia where low iron blood counts prevent the formation of new red blood cells and make these cells worse at carrying oxygen to the different cells of the body. This condition manifests itself through the symptoms you can see on the picture below.

But what’s the link between iron deficiency and vitamin C, you might ask? Well, vitamin C is necessary for iron absorption in the body, and it’s often the case that low iron counts are caused by low vitamin C counts. This way, optimal levels of vitamin C promote the absorption of iron and prevent iron deficiency.

7. Urges the Production of White Blood Cells

Yet another way vitamin C influences our blood and immune system is by promoting the formation of white blood cells, the guards of our body that fight off infections. White blood cells comprise less than 1% of our blood, but they come in various forms, which are illustrated in the picture below.

Vitamin C was proven to help form new lymphocytes and phagocytes, which are immune cells that promote healing and fight infection. Apart from that, vitamin C helps protect all white blood cells from getting damaged by free radicals. Both ways help strengthen your immune system and make you ready to ward off any infections.

8. Improves Degenerative Diseases

Some of the most dangerous and most debilitating conditions are chronic. Chronic conditions come in very different forms, and most of us suffer from at least one degenerative illness that worsens with age. Arthritis, diabetes, cancer, dementia, Parkinson’s, cystic fibrosis and asthma are all examples of such conditions, and often, we are forced to live with these conditions as they are difficult or impossible to treat.

If you are suffering from a degenerative disease, it’s especially important for you to include a lot of antioxidants in your diet, as they can prevent the free radical damage that can really worsen your condition. Vitamin C is one of the most potent antioxidants, with studies showing that adequate vitamin C levels can raise your blood antioxidant levels by as much as 30%.

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