THE IDEA THAT GERM LINE CNVs OCCUR IN THE SPERM OF OLDER MEN IS CERTAINLY A POSSIBILITY AND A VERY IMPORTANT RESEARCH LINE TO FOLLOW IN SZ AND AUTISM

"The idea that germ line CNVs occur in the sperm of older men (or women for that matter) is certainly possible and a very important research line to follow in schizophrenia and autism. However, the best experiment would be to identify de novo CNVs in patients with SZ by doing CGH and comparing the results with parental CGH (as recently reported by Sebat et al in autism). The possibility of a finding might increase if sporadic, non-familial cases are used. One cannot examine the sperm directly because the frequency of such a defect would be very low and the spermatozoan with a new CNV would be diluted by a large population of cells that do not have it. The sensitivity of current methods used to assess CNV are too low to detect such changes."

HOW ABOUT TELLING THE PUBLIC THAT PATERNAL AGE OVER 33 IS A RISK FACTOR FOR DIABETES and DOING MORE PATERNAL AGE STUDIES?

20 million people with diabetes in Europe: a regional health catastrophe!



"Diabetes is relentlessly on the rise in Europe. A bold new European diabetes research strategy is called for to win the war on diabetes - today's complacency will result in tomorrow's defeat and a public health catastrophe of plague-like proportions", said the President of the European Association for the Study of Diabetes (EASD), Prof. Ele Ferrannini from Pisa.

An exceptional event: for the first time such a conference was held in Europe. It was the result of increased political lobbying by major diabetes associations. The meeting was a wake-up call to the European political establishment: act now before it is too late. At last, diabetes is being treated on a par with other major diseases such as cancer.

“The reason for the battle against diabetes is not for the benefit of scientists or doctors, certainly not for politicians but for the million of people who live, or will live with diabetes, and suffer the pain that comes with it. I know that the European Commission is committed to going further. We have progressed, but we have many miles to travel as politicians, as nurses, as doctors, as scientists, and as individuals living with diabetes. I know it is a long road: my neuropathic feet tell me that. They tell me also there must be no weakening of our collective resolve to reach our targets.” Said John Bowis, MEP.

Research funding in the USA, by bodies like NIDDK, JDRF and sponsors from industry can inspire the European Union as they cooperate more closely than in Europe. EASD and its Foundation, the European Foundation for the Study of Diabetes (EFSD), will intensify their efforts to find a larger number of organizations to increase funding of diabetes research in Europe and ensure an efficient use of these funds.

The round table discussion closed with the proposal to form a commission, which will consider further initiatives, e.g. the possibility of creating a European fund for diabetes research and to increase the efforts of international coordination in Europe.


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It is overdue the public needs to know about what advancing paternal age is doing to the health of offspring. What is the first known comment in scientific literature?

What is the first mention in historical literature of the paternal age effect?

From a paper, "Human Longevity and Parental Age at Conception",by L.A. Gavrilov and N.S. Gavrilova, 2000

Thank you to Dr. Leonid Gavrilov for sending me the link to his paper because I was wondering what the early written observations of the problems of children of advanced paternal age were.


Wilhelm Weinberg (1862 — 1937)couldn't have been the first to write of the deleterious effects of older fathers on offspring.
The Gavrilovs have a section in their paper on the historical background.

"The first mention in the historical literature suggesting a possible life-shortening effect on offspring of delayed parenting was made by the French naturalist Buffon(1826), who noted that when old men procreate "they often engender monsters, deformed children, still more defective than their father"(see Robine and Allard 1997

TYPE 1 DIABETES IS A RISK FACTOR FOR AUTISM AND ADVANCED PATERNAL AGE IS A RISK FACTOR FOR TYPE 1 DIABETES

Contact: Emma Mason
wordmason@mac.com
44-077-112-96986
European Society for Human Reproduction and Embryology
First research to show that diabetes damages DNA in men's sperm and may affect fertility
Scientists have found that sperm from diabetic men have greater levels of DNA damage than sperm from men who do not have the disease. They warn that such DNA damage might affect a man’s fertility.

In the first study [1] to compare the quality of DNA in sperm from diabetic and non-diabetic men, the researchers from Belfast, Northern Ireland showed that the DNA in the nuclei of the sperm cells had greater levels of fragmentation in diabetic men (52%, versus 32% in non-diabetic men), and that there were more deletions of DNA in the tiny, energy-generating structures in the cells called mitochondria (4 versus 3).

Dr Ishola Agbaje, who undertook the research published online today (Thursday 3 May) in the journal Human Reproduction, said: "As far as we know, this is the first report of the quality of DNA in the nucleus and mitochondria of sperm in diabetes. Our study identifies important evidence of increased DNA fragmentation of nuclear DNA and mitochondrial DNA deletions in sperm from diabetic men. These findings cause concern, as they may have implications for fertility."

The incidence of type 1 and type 2 diabetes is increasing rapidly worldwide. While diet and obesity are known to be key factors in the increase of type 2 (or late onset) diabetes, type 1 diabetes which is usually diagnosed in childhood or adolescence, is increasing by three per cent a year in European children, although the reason for this is not entirely clear. Genetic factors that make people more susceptible, or environmental factors such as viruses that may trigger the onset of type 1 diabetes, could play a role.

Dr Agbaje, a research fellow in the Reproductive Medicine Research Group at Queen’s University, Belfast, said: "If the increasing trend in the incidence of type I diabetes continues, this will result in a 50% increase over the next ten years. As a consequence, diabetes will affect many more men prior to and during their reproductive years. Infertility is already a major health problem in both the developed and developing world, with up to one in six couples requiring specialist investigation or treatment in order to conceive. Moreover, the last 50 years have seen an apparent decline in semen quality. Sperm disorders are thought to cause or contribute to infertility in 40-50% of infertile couples. The increasing incidence of systemic diseases such as diabetes may further exacerbate this decline in male fertility. However, it is not clear to what extent clinics consider information about the diabetic status of their patients when investigating fertility problems." [2]

Dr Agbaje and his colleagues examined sperm from 27 diabetic men, with an average age of 34, and 29 non-diabetic men with an average age of 33. They found that although semen volume was significantly less in diabetic men (2.6 versus 3.3 ml), there were no significant differences in sperm concentration, total sperm output, form and structure of the sperm or their ability to move. When they measured DNA damage they found that the percentage of fragmented nuclear DNA was significantly higher in sperm from the diabetic men and that the number of deletions in mitochondrial DNA was also higher – the number of deletions ranged from three to six (average four) in the diabetic men and from one to four (average three) in the non-diabetic men.

Professor Sheena Lewis, scientific director of the Reproductive Medicine Research Group, said: "Our study shows increased levels of sperm DNA damage in diabetic men. From a clinical perspective this is important, particularly given the overwhelming evidence that sperm DNA damage impairs male fertility and reproductive health. Other studies have already shown that, while the female egg has a limited ability to repair damaged sperm DNA, fragmentation beyond this threshold may result in increased rates of embryonic failure and pregnancy loss. In the context of spontaneous conception, sperm DNA quality has been found to be poorer in couples with a history of miscarriages."

However, Prof Lewis said that it was not possible to say from this current study whether the DNA damage caused by diabetes would have the same effect on men’s fertility and the health of future children as DNA damage caused by other factors such as smoking.

"This is just one, relatively small study that highlights a possible concern. Further studies need to be carried out in order to understand the precise nature of the diabetes-related damage, the causal mechanisms and the clinical significance. Given the global rise in the prevalence of diabetes, it is also vital to examine the reproductive outcomes of pregnancies fathered by diabetic men, and the prevalence of diabetes amongst men attending for infertility treatment," she concluded.

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[1] Insulin dependent diabetes mellitus: implications for male reproductive function. Human Reproduction. doi:10.1093/humrep/dem077.

[2] Studies have estimated the prevalence of diabetes in sub-fertile men as 1% – three times more than expected (0.3%), given the prevalence of diabetes and male infertility in the general population. This suggests that diabetes is having a significant impact on male fertility.