Cystic Hallelujah

Cystic Fibrosis is an inherited genetic condition, where specialised cells called epithelial cells, found in the lining of vessels (like the lungs, the intestines, the reproductive ducts…) do not function correctly. Normally, they would produce mucus, a slimy substance that reduces friction and allows substances to pass through the tracts more easily, but when suffering from Cystic Fibrosis, the mucus becomes less runny, so it is not as efficient at lubricating.

The most common treatment is physiotherapy, where an expert massages the chest area to help move the mucus along. This is an important area to do so, since if the mucus in the lungs gets stuck, it could house bacterial infections and cause trouble breathing. But as much as this may help, it still doesn’t cure CF, so infected people may still die quite young (around 40 years old).

A possible solution which has been considered for over a quarter of a century, since the single gene responsible for causing CF had been identified, has been gene therapy. This technique consists of introducing a healthy version of the gene into the cells of an infected person, and using it to replace the mutated version. However, there are several complications involved, and it has never been fully possible to carry this out and obtain good results. But not anymore.


A liposome is a phospholipid bilayer, which can fuse with cell membranes and release the gene it contains

In a new study carried out on 116 infected people, half received a gene therapy treatment, and half received a placebo. The treatment was a solution of liposomes that carried the desired gene inside them, and which the participants had to inhale so it could easily reach the lung cells. Although both were administered for 9 months, their effects were measured until after 12 months, and to do so researchers in charge measured the volume of air participants would breathe in and out in a set period of time. The results didn’t disappoint. People treated with gene therapy not only saw a stabilisation in their lung performance, instead of the disease’s characteristic downfall, but also had 3.7% better breathing capability than those people who had been given a placebo.

Although it may not sound like an impressive feat, it certainly is. Consider this is only the first time this has ever actually worked, and that it was a scaled down version of the treatment. The dose could definitely be increased so the effects are much greater. And even if the change seems small, it could postpone the need for lung transplants for decades.

Mom, Dad and the Mitochondrial Donor

They say three is a party. But in this case, three parents may be just enough parents to save future babies from suffering a crippling disease for the rest of their lives.

We are talking about the mitochondrial replacement procedure. Found in the cytoplasm of a cell, mitochondria are powerhouses which supply it with energy to function and survive. However, they are not perfect organelles, and may sometimes have mutations which cause disease. Unfortunately, this can be passed on to children, since when fertilisation occurs, it uses the mother’s egg cell as the starter cell, and so all of her mitochondria, meaning that any subsequent cells that form from that zygote will carry the mother’s defective mitochondria.


A human zygote, which would contain a nucleus with genes from the mother and the father, and mitochondria from a donor

To prevent this, scientists have designed a new process, called mitochondrial replacement, to be carried out on women with mitochondrial diseases, allowing them to have children and prevent these from also suffering from the disease. It is done by a form of In Vitro Fertilisation. An egg cell from the mother and a sperm cell from the father are taken, like in normal IVF. The change comes when we add another egg cell, this time from a different woman (a donor). The nucleus of the mother’s egg cell is taken and it replaces the nucleus from the donor egg cell. The sperm is then allowed to fertilise the new egg cell and a zygote is formed which can then be implanted onto the mother and allowed to grow into a healthy baby. This way, the zygote will develop from a cell which contains the mother’s genes, but none of her mitochondria, so the baby is safe.

Messing around with zygotes is never child’s play, and always carries some controversy. In this case, it is due to the questionable effects of adding a third group of genes to a person. Since mitochondria are essential for life, having them come from a different source than the rest of the genome could have unpredictable consequences.

Despite some uncertainty, the UK government has approved this measure, saying there is no real proof it is unsafe. Rest assured, there will be plenty of human trials before it becomes a standard procedure, but at least it’s a brave step towards helping people suffering from these diseases improve their lives.

Why Eating Sugar Will Give You Dementia

A not-so-recent discovery could relate two of the most known diseases, diabetes and Alzheimer’s, to make their cure a much more reachable goal.

Diabetes, especially Type 2, which is the one we’re going to talk about today, is a disease caused mostly by lifestyle, like eating high-energy foods, lots of sugar, fat, or little exercising. Normally, when there are high sugar levels in blood, the pancreas releases insulin to make the liver process all this glucose to turn it into glycogen, which the body can then store. But when the levels are repeatedly high, and therefore the pancreas releases a lot of insulin, cells start to resist to its effects, so they no longer convert glucose. This causes a lot of metabolic problems and memory loss issues.

Alzheimer’s a completely different story. It is a form of dementia normally caused by age, and its effects range from memory loss to irritability and in the last and worse stages can lead to loss of bodily functions and ultimately, death.

diabetes and alzheimer'sA few years ago, these diseases were observed apart, seemingly different from each other in most   ways. But through the years, more and more proofs have been found that support this very interesting theory that states that Alzheimer’s is actually late stage diabetes. This could mean that the memory loss caused by diabetes is actually an early-stage symptom of Alzheimer’s.

One of these proofs is epidemiological. It has been found that people with Type 2 diabetes have a bigger chance of having Alzheimer’s than those who don’t suffer it. This lead scientists to search for a common trait in the diseases and it was found by researcher in Brown University, who discovered that for those with Alzheimer, the part of the brain that manages memories (the hippocampus), was resistant to insulin, in a similar way in which the liver is resistant to insulin in people with diabetes.

But a question remained: how does being insensitive to insulin cause dementia? The answer is quite complicated. Supposedly, people with diabetes have their brains full of an insoluble protein called beta-amyloid, which is produced by smaller, soluble versions of the protein called oligomers. This substance is very abundant in the brain, and causes receptors to bind with it instead of with insulin.

Scientists did an experiment with rats to back up this theory, and here’s how it went:

There were 2 groups of rats, a healthy group, and a diabetes group. The test was to see how much time the rats froze by seeing a chamber that gave shocks. The healthy rats froze for more time than the diabetic ones. But when a sample of antibodies, engineered to cancel the actions of the oligomers was injected into the unhealthy rats, they froze the same amount of time than the other group.

So ultimately, the cure would be to inject people with high levels of oligomers in the brain with these amino acids, so the brain would continue reacting to insulin. However, these substances and their effects on the brain have been studied for years now, and there hasn’t been any real change. Also, for these amino acids to work, they have to be injected directly into the hippocampus, which can be a bit complicated in humans. And although a good percentage of people suffering from Alzheimer’s have diabetes, not all of them have, so there is still some work to do in the other branches of this disease.

However, if this theory was proven to be completely true, it could have major implications. Both diabetes and Alzheimer’s are very common diseases, and the number of affected people is predicted to increase very rapidly in the next few years.

Right now, there is no cure for Alzheimer’s, but there are many treatments for Type 2 diabetes, and our society is becoming more health conscious by the minute, so if the former disease could be stopped, Alzheimer’s could be potentially beaten too, given enough time.