Rare mutation may protect against heart disease

A rare genetic mutation reduces the risk of having a heart attack by one-third, a study has found.

The mutation, which substantially lowers levels of non-HDL cholesterol – a marker for heart-disease risk – is already being investigated as potential drug target for preventing heart disease.

'[This is] an important and previously unknown mechanism for modulating non-HDL cholesterol and risk of the most common and deadly forms of heart disease,' said Dr Kári Stefánsson, founder and CEO of deCODE Genetics, who led the research. 'We know we have put our finger on something fundamental when we find a single variant that confers on carriers an average one year of extra lifespan,' he added.

The study, published in the New England Journal of Medicine, matched the genomic data of around 400,000 Icelanders against their medical records. The team found that fewer than one percent of these individuals had a loss-of-function mutation that was associated with significantly lower levels of non-HDL cholesterol. Carriers of the mutation were also 34 percent less likely to develop heart disease, and lived on average one year longer. The researchers could not find any adverse effects of having this mutation.

The same correlation cropped up when they looked at the genomes of over 300,000 people of European ancestry, including populations from the Netherlands, Denmark, Germany, New Zealand, the UK and the USA.

The mutation they identified was in the gene ASGR1. Although the researchers do not yet know how the mutation results in a reduction in the risk of heart disease, Amgen – the technology giant that bought deCODE Genetics in 2012 – is already developing drugs to mimic its protective effect.

Researchers found a mutation with a similar effect over a decade ago, and Amgen recently developed a drug based on it. The drug was approved by the US Food and Drug Adminstration last year. But Dr Stefánsson believes that this new drug target may be even more effective as he says it reduces heart-disease risk by more than would be expected given its effect on cholesterol alone. 'This is a genetic discovery that is pointing to the possibility of manipulating something other than just blood lipids,' he told Nature News. 'We have no drugs, really, that affect the risk of coronary heart disease that work on alternative mechanisms.'

However, Professor Harlan Krumholz

, a cardiology researcher at Yale University in Connecticut, is unconvinced by this claim. 'This study is far from identifying an alternative mechanism of risk reduction for a variant associated with non-HDL reduction,' he told Nature News.

74 genes linked to education level, but effect is minimal

One of the largest-ever genetics studies in the social sciences has found 74 genetic variants that are associated with the amount of time an individual spends in education.

However, the researchers estimate that the variants they identified comprise just 0.43 percent of the variation in length of time spent studying across individuals.

In other words, for the variant with the largest effect, 'the difference between people with zero copies of the gene and those who have two copies predicts, on average, about nine more weeks of schooling,' Professor Daniel Benjamin, a co-author from the University of Southern California, said.

Professor Benjamin said that therefore 'simplistic interpretations of our results, such as calling them "genes for education", are totally misleading'. Nonetheless, Professor Robert Plomin, a proponent of the view that genes strongly influence educational attainment, and who was not involved in the study, told the Guardian that research had reached a 'tipping point' where genetic tests could be used to identify people's individual educational strengths and weaknesses.

The study, which was published in Nature, pulls together research by 253 researchers in 15 countries and considers time spent in education to be a reasonable correlate for educational attainment. The genomes of just under 300,000 people of European descent were analysed, and the 74 variants associated with time spent in education were picked out. The results were verified by testing to find the same associations in the 111,000 people who have their DNA stored in the UK BioBank.

The variants that were identified are disproportionately found in genomic regions that regulate fetal brain development. They also overlap with variants linked to scores on cognitive tests and genes thought to be associated with disorders such as Alzheimer's and schizophrenia. Professor Benjamin told the Guardian that the study might contribute to research in those fields as well.

Despite this possibility, some commentators have reacted angrily to the paper. 'Policymakers should pull the plug on this sort of work,' anthropologists Dr Anne Buchanan and Dr Kenneth Weiss from Pennsylvania State University said in a statement sent to Nature. 'We gain little that is useful in our understanding of this sort of trait by a massively large genetic approach in normal individuals.'

On the other hand, Professor Plomin was highly supportive of the study. He told the Guardian that the research brought genetic testing for educational capabilities one step closer. He added that such tests 'will move education closer to "personalised learning" rather than continuing to assume that a one-size-fits-all national curriculum works equally well for everyone'.

Giving birth at 70 years old, unreasonable assisted reproductive technology!

Daljinder Kaur, a 70-year old Indian woman, has just given birth to her first child who was conceived in-vitro by IVF with egg donation from a fertility clinic.

The mother purportedly declared: « When we saw the IVF advert, we thought we should also give it a try as I badly wanted to have a baby».

This is the country’s second case of pregnancy to a mother at a very advanced age; in 2008 a 72-year old woman in the State of Uttar Pradesh gave birth to twins following IVF.

In countries where there are no limits for having recourse to ART, a “procreative tourism” is developing and a form of “right to a child”, even for postmenopausal women. Last year, a 65-year old German woman gave birth to very premature quadruplets, conceived by IVF with donor gametes in the Ukrainian clinic BioTexCom. Besides the health risks for the mother as well as for the baby that are associated with late age pregnancy, such practices raise questions about the lack of concern for the child’s interest, born from a donor to an elderly couple thus resulting in the substantial likelihood of becoming an orphan at an early age.

THE BAN ON HUMAN EMBRYO RESEARCH IS UPHELD IN ITALY

The Italian Constitutional Court has reconfirmed the legitimacy of the ban on human embryo research. In last month’s decision, the Court declared that Article 13 of Law 40, a 2004 law governing assisted procreation, was constitutional.

This legislation was contested by a couple who produced several embryos in an in-vitro fertilisation clinic. This couple requested that “defective embryos” be used for genetic research although this is prohibited by law 40.

Geneticist Bruno Dallapiccola from Bambino GesùHospitalcommented as follows on the decision: “An embryo is not simply a mass of cells but something that deserves to be respected. The decision of the Constitutional Court to uphold the ban on using frozen embryos for research, confirms this principle”.He also expressed his scepticism about using human embryo stem cells: “The results that many hoped for did not come to fruition.The idea that research into embryo stem cells is currently useful for the treatment of serious diseases is, in my opinion, only a slogan, which does not reflect reality. Whereas adult stem cells have led to tangible results which are transferable to clinical practice and induced pluripotent cells have resulted in the creation of disease experimental models, embryo stem cells have led nowhere”.

Artificial reproduction: research by sorcerer’s apprentices

Researchers at the Valence Institute in Spain and at the American University in Stanford, California, have announced succeeding in developing human spermatozoids from skin cells. This work was published April 26 in Scientific Reports, the online journal of the review Nature.

To obtain this result, adult skin cells were collected, and « reprogrammed » to become germ cells, then spermatozoids, using a cellular reprogramming technique called “IPS” developed by Yamanaka and John Gurdon, respectively Japanese and British Nobel Prize winners in Medicine in 2012.

The resulting spermatozoids are not yet able to fecundate. “It is a spermatozoid but it requires a supplementary maturation phase to become a gamete. It’s only the beginning”explained Carlos Simon, the scientific director for the Infertility Institute in Valence.

To carry on with these studies, the team plans to continue their research in Great Britain, since the following step, the creation of an “artificial embryo” is authorized in that country.

The objective of this technique is to overcome some forms of sterility. “This is the problem we intend to tackle: creating gametes for those who do not have any”, asserts the Spanish researcher. Other unprecedented possibilities are visible, such as creating embryos from the gametes of two individuals of the same sex.

Producing spermatozoids from various components is a challenge that numerous research teams in the world would like to meet. However, these techniques are raising serious ethical issues, since the result of such experiments is nothing less than the artificial creation of a new human being.