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.

liposome

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.

Genesexual


gene

Although genes could now have a very important effect on men’s sexuality, the environmental impact is still significant

In the largest study on the matter up to date, scientists from Illinois have investigated the DNA of hundreds homosexual men and have found revolutionising results that show that being gay could have a strong genetic influence.

Although the genome is a vast structure, home to thousands of genes, there were two very specific areas contained in it that were analysed in detail. Both these areas have been known by the scientific community for quite some years. For example, one of them, located in the X chromosome, and called Xq28, was first suspected to be related to homosexuality in a smaller study in 1993; whereas the other one, 8q12 in chromosome 8, was discovered in 2005. The aim of this experiment was to confirm these areas had some effect on sexuality in men and investigate how they caused this effect.

Overall, 818 men, all gay, volunteered for this project. This is almost 20 times more people than in the study in 1993. But to make it reliable as well as statistically accurate, many of the test subjects were brothers; in some cases, even non-identical twins! Having two closely related individuals with similar genetic makeup can make differences in their genome stand out and their distinct effect on the phenotype much easier to find. Using DNA collected over many years from blood samples, the scientific team looked closely at these men’s gene sequence. They were looking for small differences in the coding between brothers, specifically for single nucleotide polymorphisms, which are changes of only one base or nucleotide in a gene. After all the DNA samples were analysed, 5 single changes in the nucleotides were observed, and most occurred in these two regions of the genome.

What makes this study’s results worth considering is the fact that the only feature all these men shared was their sexuality: they were all gay. They varied in every other physical feature; so any change in those areas of their genome that was common to all men had to be related to their sexual orientation.

But both Xq28 and 8q12 are filled with genes, so although we know almost certainly that there are genes in there related to homosexuality, there is still not a distinct list of genes that could cause someone to be gay. Finding them hidden in these large areas full of coding is the team’s next task.

This discovery has, as could be expected, grave implications. It could help resolve all discrimination against gay people, and show that their sexual orientation is not a choice, but actually who they are. But unfortunately, it could lead some people to consider homosexuality as a biological mistake or a negative mutation, and even resort to genetic engineering to identify and remove ‘gay genes’ from embryos. This is wrong on many levels, but the most related to this article is that a person’s sexuality is not only defined by their genes, but is also affected by the environment they live in, so changing their genes is unnecessary and would not prevent homosexual people from being born.

Autism Hates Males


Autism is a genetic condition that affects both males and females, but a recent study suggests that women have a special protection against this disorder that men lack.

For a person to become autistic there must be a genetic mutation. Sometimes it only takes a mutation in one gene, but normally it is a group of mutations that end up causing autism. In fact, throughout the years, there’s been hundreds of mutations discovered that have the ability of causing it. But now we know that the number of genes that cause autism in humans can be different depending on gender.

This difference because of sex was found out by a group of scientists in the University Hospital of Lausanne in Switzerland, where more than 700 families with a child with autism were tested, and their genome analysed.

They were looking for two different types of mutations: copy number variations (where large parts of the genetic material is destroyed or duplicated) and single gene mutations. The conclusion was females were three times more likely to have more of these mutations than males.autism

The fact that girls have to have more mutations to contract this condition means they are more protected than men, which explains why there are 4 times as many male autistic people as there are females. So their brains can work better with mutations than men’s with the same mutations.

To back these results, there’s been another investigation, from the Autism Genome Project, with 2400 patients, which shows similar results. The aim of this foundation is to map the genome of as many autistic people as possible, so as to find a trend they could understand and translate it into a treatment for autism. Although there is still no conclusion, there is progress in this field, demonstrated by this discovery. If we were able to decipher the way in which females are protected, we could be closer to creating a cure for this condition suffered by more than tens of millions of people worldwide.