Archive for the ‘Genetics’ Category

Telomeres have been a focus of anti-aging research for quite sometime. Unfortunately, no breakthroughs have yet revealed any glimmer of the fountain of youth. Telomeres are pieces of DNA that cap the ends of our chromosomes. Each time a cell divides (which is required for us to stay alive) telomeres get shorter and shorter until they reach a point where division is halted, thus putting bodily cells into a state where they can no longer renew themselves – thus is part of the aging process. However, new research focusing on Ashkenazi Jews has found that those who lived the longest had inherited a hyperactive version of an enzyme called telomerase that is able to rebuild telomeres. “In effect, centenarians tend to have a top-notch body mechanic at work 24/7 repairing the hardware that runs the body, versus a normal person whose body’s cellular control center is left to wear out with time.” Will this startling research lead to future advances in the pursuit of longevity? Only time will tell. [via Yahoo! News]

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British scientists at Newcastle University claim this week that they have created human sperm from embryonic stem cells. Stem cells can develop into any type of human cell, but this is the first time they have been coaxed into forming sperm. Critics say the “artificial” sperm do not have the same exact shape, movement and function of real sperm. Despite this, progress has certainly been made towards creating sperm in the laboratory. This research could eventually help infertile men father children with sperm created from their own stem cells. Read more and watch a video of the sperm making process as voiced by the lead researcher, Professor Karim Nayernia.

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It is not a secret that beautiful people tend to receive preferential treatment. But, how does that impact our ability to parent? A study from Harvard-affiliated McLean Hospital looks to explore this phenomenon. Study volunteers were shown pictures of conventionally attractive babies and others with distinct facial irregularities, such as skin problems or cleft palates. Each photo was shown on a screen for four seconds, but volunteers could extend or shorten the viewing time of each photo by pressing certain computer keys. The study found that women shortened the viewing time of “less-attractive” children 2.5 times more than men. Researchers theorize this is purely an evolutionary response that parents, especially women, would innately devote more energy to the offspring most likely to yield the highest genetic payoff. On the other hand it’s possible that women chose to not look at babies with facial defects because they are more empathetic and sensitive towards these children. Men, on the other hand, chose to extend the viewing time of more aesthetically beautiful children just as often as women, but they did not hurry through pictures of children with facial irregularities.

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Traditionally, people with darker hair and skin color who do not sunburn easily were classified as lower risk for skin cancer. But new research is showing that even people with these traits can be at high risk for melanoma, based on their genetic factors. Researchers at the University of Pennsylvania have discovered that variations in the melanocortin 1 receptor (MC1R), a molecule that controls skin pigmentation, in individuals with dark features can actually increase their melanoma risk by 2.4-fold. Although no test is currently available to detect whether one has a MC1R variant, this genetic contribution to melanoma risk will definitely be considered when stratifying individuals for skin cancer risk in the future.

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Thirty six percent of East Asians (Japanese, Chinese, and Koreans) show a characteristic physiological response to consuming alcohol that includes facial flushing , nausea, and tachycardia. This “alcohol blush” is now considered a risk factor for esophageal cancer, one of the deadliest cancers worldwide with a 5-year survival rate of only 15.6% in the United States. Heavy alcohol consumption greatly increases the risk for esophageal cancer among these individuals, who comprise about 8% of the world’s population. Therefore, by simply knowing whether you have this this characteristic response to alcohol, you can decrease your esophageal cancer risk by limiting alcohol intake.

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A Los Angeles fertility clinic has sparked controversy by offering parents the ability to select the sex, hair color and eye color of babies. However, “designer babies” have actually been here for many years already. The technology, called preimplantation genetic diagnosis (PGD), is currently used during in vitro fertilization to screen embryos for genetic diseases (such as Huntington’s disease, sickle cell anemia, muscular dystrophy) prior to implantation into the mother’s womb. The difference now is that you are selectively choosing an embryo based on physical traits.  The LA Fertility Institute’s first such designer baby is expected to be born next year and will no doubt spark discussions of ethics and morality.

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Researchers across the US are awaiting an imminent lift on the current embryonic stem cell research ban. The Obama administration is expected to overturn the policy set forth by former President George W. Bush later this week. Unlike adult stem cells, embryonic stem cells are derived from eggs that have been artificially fertilized in an in vitro fertilization clinic, and then donated for research purposes with informed consent of the donors. Embryonic stem cells can become any of the 220 types of cells in the body, whereas adult stem cells are more limited. Scientists at the University of California, Irvine have already developed a therapy based on embryonic stem cells which made paralyzed rats walk again. Earlier this month they were given federal approval to be the first embryonic stem cell treatment to be tested in humans.

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New findings published in the Proceedings of the National Academy of Sciences this week points to a gene that may be present in 20% of caucasians with high blood pressure. The STK39 gene directs the production of a protein that controls how kidneys process salt – a key factor in blood pressure fluctuation. When the body retains too much salt it also retains water, which is why those with hypertension are always advised to eat a low salt diet. Although this discovery will likely lead to new treatments, hypertension is a complex disease that can have many contributing factors – family history, diabetes, poor diet, lack of exercise, smoking, obesity, just to name a few. So as you can see, even if you don’t have the STK39 gene there are plenty of ways to get hypertension. And if you do have the gene there are likely other risk factors which you can do something about.

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A British baby due this week will become the first child to be born with certainty that it does not have the BRCA1 gene mutation. Approximately 5% to 10% of breast cancers are believed to be due to genetic mutations inherited from parents – the most common being the BRCA1 and BRCA2 genes.  Because the British couple conceived through in virto fertilization, they were able to screen for cystic fibrosis, Huntington’s disease, and now BRCA1, at the 6 to 8 cell stage prior to implanting the embryo into the mother’s womb. All the women on the father’s side of the family have developed breast cancer, which is why the couple decided on genetic screening. Women who inherit the BRCA1 gene have up to an 80% increase in risk of developing breast cancer.

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The journal Human Reproduction reports on a nationwide US study which has found that babies conceived through Assisted Reproductive Technology (ART), such as in vitro fertilization and intracytoplasmic sperm injection, have higher rates of birth defects. Compared to infants conceived without ART, the CDC study found that in pregnancies which resulted in single births, ART was linked to twice the risk of certain heart defects and cleft lips and more than four times the risk of some types of gastrointestinal defects. Although the relative risk of birth defects are still low, it is certainly a consideration for couples who choose to conceive with ART.

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