The Science Bit – Part 10: Pigs lead the way in Cystic Fibrosis research

1 04 2011

Cystic Fibrosis (CF) is a recessive genetic disorder that affects approximately 8,500 people in the UK. It’s the most common life-shortening inherited disease in the world, with around 1 in 20 people being a carrier for the condition.

CF is caused by a mutation in the gene for a protein called the cystic fibrosis transmembrane conductance regulator or (thankfully) CFTR for short. This protein, in its normal state, is a channel protein that controls the movement of salts from the inside of the cell to the fluid surrounding the cells in the lungs, pancreas and other affected organs. In the sweat glands, CFTR usually works by moving salt from the sweat on the skin back into the body. When CFTR does not work properly however, too much salt and not enough water accumulates in the lungs, pancreas etc, and remains on the skin. The lack of water means that the normally lubricating tissue fluid in these organs becomes thick and sticky mucus.

The most recognisable symptoms of CF are to do with the build up of mucus in the airways, which causes unrelenting, mucusy coughing and a difficulty in breathing. Bacteria thrive on the thickened mucus, so lung infections including pneumonia are common, leading to damage of the airways and general poor health because of the inability to exercise properly to maintain fitness.

Mutated CFTR has effects elsewhere in the body, too. In the intestines, severe, chronic constipation caused by a lack of water to soften stools in the bowel can often lead to infection and rectal prolapse. Food cannot be digested properly in the small intestine, so CF patients often have difficulty in maintaining their weight and growth is stunted. The bile ducts may become blocked and cause damage to the liver. Cystic Fibrosis-related diabetes may occur as a result of the blockage of insulin in the pancreas. 97% of CF men are infertile because of an absence of the vas deferens, the tube that supplies sperm to the penis.

Given all these complications, it’s perhaps not surprising that until only a few decades ago, an infant born with CF would have been lucky to reach its first birthday. Now, although still a relatively short life expectancy, a CF sufferer might live well into their 30s and 40s, and with a successful lung transplant, even longer. Advances in treatment, including respiratory therapy, antibiotics, physiotherapy, diet and lifestyle changes have all made significant improvements to the quality of life for CF patients. But while the symptoms of CF can now be more effectively managed, there is still no cure for the disease.

A key to finding a targeted cure for CF is to understand the genetic and molecular processes that go on at the cellular level. Recently, a team of researchers from the University of Iowa made an important discovery that brings us a little step closer to the end goal of curing this disease. Pigs.

Pigs have long been used as an animal model for human disease research because in many organ systems, they have a very similar anatomy. Of course, there is much about a pig that is different, but by genetically engineering a pig model that mimics the faulty CFTR gene, the research team have been able to discover that the mutated protein has the same pathological effects in their pig model as in humans. This breakthrough means that pigs may now be used in further research to more accurately pinpoint what exactly happens to the mutated CFTR protein, and to find a way to treat it or correct it.

Using their new model, the team, whose findings were published in Science Translational Medicine last week, have already identified that the faulty CFTR protein is “misprocessed” in the cell and ends up in the wrong place, compared to the normal protein. Now that we know that pigs are analogous to humans in the manifestation of CF, they can be used to test a variety of potential new treatments, including gene therapy techniques that replace the faulty gene with a working copy, and “corrector” drugs, which aim to move the faulty protein to its proper position in the cell. The development of a pig model for studying this disease opens new doors to finding a way to beat cystic fibrosis, and new hope to its victims.

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BMC Blog VI

18 03 2011

My turn again to moderate the BMC Blog this week – bit of a slow news week at BioMed Central, but here are the blog posts I edited and moderated!





Losing your teeth linked to losing your mind

2 02 2011

A press release I recently wrote for BioMed Central’s open access journal Behavioral and Brain Functions has again hit the newstands. I can’t find an online archive of the original release I wrote, but some lazy journos have reproduced it verbatim, so I definitely know it’s mine!

The release describes a study from the Nara Medical University in Japan whereby elderly people suffering from Alzheimer’s disease were found to lose more teeth than those without the degenerative neurological disorder. Not only is this tooth loss associated with failing to remember to brush one’s teeth and a general poor state of hygiene, but gum disease may in fact accelerate dementia by affecting the sensory neurones in the gums, leading to the brain.

Read the original article in Behavioural and Brain Functions: Relationship of tooth loss to mild memory impairment and cognitive impairment: findings from the fujiwara-kyo study

Read some of the news articles using this press release:





‘Mum! I’m hungry!’ Hungry chicks have unique calls to their parents

26 01 2011

Scientists studying Jackson’s Golden-Backed Weaver birds have discovered that not only can the parent birds identify their own chicks by the unique sound of their calls, but they can also tell if their chick is hungry, and how hungry.

A press release that I wrote for BioMed Central, following a study published in BMC Ecology, reveals that the more hungry a baby bird is, the more frenetic and unique the call becomes, so that parent birds not only know that they need to gather food for their young, but also how much.

Read the original article at BMC Ecology: The effect of hunger on the acoustic individuality in begging calls of a colonially breeding weaver bird

Read the press release I wrote at EurekAlert: ‘Mum! I’m hungry!’ Hungry chicks have unique calls to their parents

Read some of the press articles that used the press release:





It’s grim up North! Northern men have dirtier hands than Southerners

12 01 2011

A study recently published in the open access journal BMC Public Health has found that men “oop North” seem more likely to carry harmful bacteria on their hands. Researchers from the London School of Hygiene and Tropical Medicine took swabs from the hands of commuters travelling through some of the UK’s major rail stations, and the further north they went, the more bacteria – and the more harmful bacteria – they found.The dirtiest men were found to be students and people who worked with soil.

Read the original article at BMC Public Health: Male commuters in north and south England: risk factors for the presence of faecal bacteria on hands

Read the press release I wrote on this article at BioMed Central: It’s grim up North! Northern men have dirtier hands than Southerners

Read some of the articles that used my press release:

The story was also discussed on BBC Radio 5 Live (no longer available)





DVT and pulmonary embolism linked to immune diseases

9 01 2011

Researchers at the University of Oxford have found that people with certain immune-related diseases such as type 1 diabetes, arthritis and lupus are much more likely to suffer complications due to vascular disease – even if they didnt have any cardiovascular problems before.

Having surgery and being laid up in bed increases the risk of deep vein thrombosis and pulmonary embolism anyway, largely because immobility reduces the circulation. Taking certain medications for other diseases might also affect blood flow. Even taking these factors into consideration however, immune disease sufferers still had a significantly greater chance of developing DVT and embolism.

Read the original article at BMC Medicine: Risk of venous thromboembolism in people admitted to hospital with selected immune-mediated diseases: record-linkage study

Read the press release I wrote about this article at BioMed Central: DVT and pulmonary embolism linked to immune diseases

Read some of the stories that used my press release:





Genetics linked to increased risk of heart disease in African Americans

7 01 2011

New research published in BMC Medicine has revealed clear genetic markers that help to explain why cardiovascular disease is more prevalent in African Americans compared to Caucasians.

It has been known for some time that African Americans are more prone to certain diseases than people of white ethnicity, but this small scale study shows for the first time what the reasons for this might be, at the genetic level. In particular, the researchers from the Vascular Biology Department at the University of Minnesota found that the blood outgrowth endothelial cells of African Americans respond differently to shear stress.

Read the original article at BMC Medicine: Differential endothelial cell gene expression by African Americans versus Caucasian Americans: a possible contribution to health disparity in vascular disease and cancer

Read the press release I wrote about this article at BioMed Central: Genetics linked to increased risk of heart disease in African Americans

 








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