08.30.09
Posted in Uncategorized at 4:37 am by Luis
Imagine having been born from a biological dad, and two biological moms. Wait. Don’t imagine. It’s already happened. For now in monkeys, but who knows someday in humans too. And based on your belief, it’s a “no way!” or a “way to go!”.
How did a three-parent experiment happen?
Scientists from the Oregon National Primate Research successfully transferred the nuclear DNA from one macaque into another cell which had it’s mitochondrial DNA removed (termed mitochondia gene replacement). The hybrid egg cell was fertilized by a sperm and implanted into the uterus of a surrogate mother. Out of the fifteen hybrid embryos, four baby macaques have survived through full term and seem to be thriving.
And why is this experiment in monkeys so important for humans?
This experiment opens the possibility of giving people who have mitochondrial disease (and suffer from infertility) the chance to bear healthy children by using someone else’ cell. It also opens the possibility of same-sex parents bearing a child from their own genetic materials.
But first, legal and ethical problems must be faced before any of these dreams can come true. Discovery magazine has a great piece on the potential and hurdles for this technique.
The study “Mitochondrial gene replacement in primate offspring and embryonic stem cells” was published online on August 26 in Nature, and an article explaining the study appeared in Nature News.
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08.29.09
Posted in Uncategorized at 6:33 am by Luis
If you’re looking for some date night romantic flick this weekend, I suggest watching THE TIME TRAVELER’S WIFE. But leave your genetics behind the theater door.
THE TIME TRAVELER’S WIFE is a movie-adaptation of the novel by Audrey Niffenegger. I just saw the movie and I loved the idea of a love so deep and true that it endures beyond time… Or in geekspeak – the space-time continuum known as time travel.
The movie revolves around Claire’s love for a man named Henry, who has a genetic condition that causes him to involuntarily travel in time. His condition is called Chrono-Displacement Disorder, which is apparently heritable. I don’t want to spoil the movie too much, so I won’t give away the storyline (you can Google it up). But if you’re like me who wants to take a movie apart piece by piece after watching it, I suggest not to. It will only make your head spin, pun intended. None of the usual sci-fi concepts about time travel apply to this one. So – stop right there. You are reading/watching a completely science-fiction romantic movie. And if you’re wondering about the genetics, well… There is no such thing as chrono-displacement disorder.
Image: Newscom
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08.21.09
Posted in genes at 12:14 pm by Luis
Antibiotics are normally used to treat the wide variety of bacterial infections, however they are ineffective against viruses (like the flu and colds) and fungal infections. And while genetic diseases can be treated with therapy and proper management, the gene will always be defective. AND, antibiotics are not known or normally used to treat genetic defects.
Well, this antibiotic may be the exception.
Israeli scientists have modified a potent antibiotic that may allow it to treat cystic fibrosis and other genetic diseases caused by “stop mutations”. The anti-bacterial antibiotic gentamicin is one of the highly toxic antibiotics called aminoglycosides that doctors only use when less powerful drugs prove ineffective. but gentamicin is extremely toxic and lethal when taken long term, which is what would be needed to treat genetic diseases.
So scientists modified the drug gentamicin and removed its lethal anti-bacterial properties to make it less toxic. The new drug is now called NB54, and it works by allowing DNA to continue processing proteins despite a stop mutation. A stop mutation is a genetic code that prematurely stops the process of making a protein. Stop mutations are responsible for anywhere between 10% to 15% of all genetic defects.
The researchers found NB54 effective in treating cystic fibrosis in lab mice but have yet to test on humans, so it may take awhile before we see this on your prescription list. BUT, it’s quite promising!
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08.20.09
Posted in genes, Genetic Engineering, Genetic Future at 5:00 am by Luis
45 breaks and fractures , 16 screws and 2 plates in lower right leg , 3 screws in right knee , 2 screws in left knee , 4 pins and 2 screws in right wrist , 2 screws and a load of wire in left elbow that’s about it.
Ouch. That sounds like major ‘machinery’ repair to me.
When bones break into several pieces, usually the only repair would be screws, pins and plates. But that could all be a thing of the past with this medical breakthrough –
Scientists created a synthetic glue for repairing broken bones using the genes of a marine worm! The sandcastle worm is a marine animal that builds its home from sand and broken shells by gluing the pieces together using a glue-like substance that it secretes. Scientists were able to clone the genes of the natural adhesive and manufacture synthetic glue from it. The synthetic mimic is even better than the original because it was twice as strong as the worms’ version. The glue can set in a wet environment (crucial for gluing bones inside the body).
The researchers haven’t tested the synthetic compound on live animals and they still need to make it biodegradable but they are hopeful about the invention. The report was presented at the American Chemical Society Meeting in Washington DC.
Image: Bauer-Griffin (“Terminator Salvation” promo images)
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08.18.09
Posted in genes at 10:05 pm by Luis
I read about Jessa Perrin’s story and was struck with how her world was turned upside down by a rare disease.
Jessa Perrin was backpacking in Israel when she suddenly became ill. Her skin turned yellow and her liver, kidneys and lungs failed within a day of being admitted to the hospital. She wasn’t even diagnosed with anything yet, but she needed liver transplant fast, or else she was not going to last a week.
The doctors finally diagnosed Jessa with Wilson’s Disease, a rare, recessive genetic disorder that shuts down the body’s ability to get rid of copper. Jessa inherited two abnormal copies of the ATP7B gene, one from each of her parents (who were carriers). Because it’s a recessive trait the carrying parents do not have any symptoms and have no known family history of the disease. Symptoms begin to appear from aged 2 to 72 years, since it takes a while before the body accumulates so much copper before it causes organ damage. Some of the symptoms are:
- swelling of the liver or spleen
- jaundice, or yellowing of the skin and whites of the eyes
- fluid buildup in the legs or abdomen
- a tendency to bruise easily
- fatigue
Jessa Perrin was fortunate that she was able to get a new liver and be treated for other symptoms of Wilson’s disease. Her sister was also fortunate – she was found negative for the abnormal alleles.
Here are some points to remember about Wilson’s Disease (source: NIH):
- Wilson disease prevents the body from getting rid of extra copper.
- Wilson disease first attacks the liver, the central nervous system, or both.
- Anyone with unexplained liver disease or neurologic symptoms with evidence of liver disease should be screened for Wilson disease.
- Wilson disease requires lifelong treatment to reduce and control the amount of copper in the body.
- If the disorder is detected early and treated effectively, people with Wilson disease can enjoy good health.
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