Genetics and Health

Mitochondrial bottleneck behind transmission of diseases from mom to child

There are over 40 known diseases that are passed only from mother to child, some of them severe and debilitating. These diseases come from the mitochondrial DNA (mtDNA) of the mother, but the proportion of DNA that is passed to the children are so varied that scientists have no means of predicting the severity and presenting symptoms of the disease in the offsprings.

That is, until recently when scientists located a genetic bottleneck in the mitochondria of the mother’s developing eggs that determines the proportion of mutated mtDNA that mothers transmit to their child. Understanding this bottleneck event, and really predicting its outcome in the child, is so important in the treatment and genetic counseling of diseases that are maternally inherited.

The study appears in the December issue of the Nature Genetics journal.

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By Grace Ibay -- 0 comments

Hawaii: GM crop test capital of the world

The land of pineapples, bananas and sugarcane, Hawaii seems like an unlikely place to grow corn. But in the last 10 years or so, the Aloha state has been home to genetically modified crops - potatoes, soybeans, wheat, beets, rice, safflower and other food traditionally grown in the mainlands.

Scientific American takes another jab at the pros and cons debate on Genetically modified food, in the background of a economically thriving but ecologically isolated Hawaii. Of interest is a report that genetic drift has been found in non-GM papaya seeds that test positive for GM material. The safety of genetically modified food is always a top debate topic. But in the case of Hawaiians, rejection of GM food, in particular taro root crop, has as more to do with its legendary origins and ties with the Hawaiian culture.

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What’s all the hype about retracting a Nature paper?

  A highly cited Nature paper that identified a long-sought receptor critical for mediating plant response to stress is being retracted after researchers were unable to reproduce the results. (The Scientist)

The paper in question was the first to identify a receptor for abscicic acid (ABA), which regulates plant stress response. It has been cited some 120 times since its publication in 2006. Scientific experiments are not exact nor always produce results that are set in stone. Even the cleanest and best experiments will find changes in the future as methods and technology improve. But that’s the nature of science. We discover something new and report it, and other scientists test our methods and results. Now I suppose citing the retracted Nature paper is not a real problem unless future studies relied on the assumption that this one paper was correct. Unfortunately, that’s exactly what the problem was.

"It obviously put a big dent in what we’re doing," said corresponding author Robert Hill. "It’s meant that we’ve had to go back and reinterpret data." One graduate student has had to "chop a publication" which was based on the assumption that the ABA receptor was real. "I’ve come to reconcile with the problem," said Hill, adding that he is working to correct it "without hurting too many people."

image: sxc

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New genetic syndrome discovered in Quebec families

A new genetic syndrome was discovered in a group of families in Quebec with a common ancestor. The syndrome was named MEDNIK to describe the resulting phenotypes - mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratodermia.

The scientists found a new splice mutation in the AP1S1 gene, which encodes a subunit of a complex (AP) responsible for selecting which proteins move within the cell. A zebrafish knockdown model was used to study the loss of the gene’s function further. Injecting the affected larvae with a human normal AP1S1 mRNA restored some phenotypes.

The study is published in PLOS Genetics.

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Venter creates synthetic genome in one step

And we thought artificial life was in the distant future… J. Craig Venter and his institute has successfully manufactured the first synthetic yeast organism, in one step!

The key? "Co-transformation of 25 different pieces at once" writes lead author Daniel Gibson, a JCVI scientist, in the advance issue of Proceedings of the National Academy of Science.

“Thus, large DNA molecules can be assembled much more rapidly from synthetic or naturally occurring sub-fragments than with any other system described previously.”

J. Craig Venter Institute has dedicated its efforts to creating a synthetic organism, and this new finding is one step closer to that goal. Synthetic Genomics, founded by Venter, is reportedly using the new method to come up with biofuels and other biochemicals using synthetic biology.

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Gene therapy research presents hope for sickle cell anemia

Scientists are used to being cautious. But I was reading this article and I was beside clapping for the science!

See, whenever we get very good results from our experiments, we always tell ourselves "let’s test this some more", "let’s confirm this in some other population". Well, let’s. But the results of this new study are so encouraging that we ought to celebrate with virtual champagne!

Gene therapy has successfully treated sickle cell anemia in mice! OK, so it’s in mice but read on first.

The scientists introduced the gene for gamma-globin into the mice’s blood-forming cells and then introduced those altered cells into  (sickle-cell anemic) mice. The investigators found that months after they introduced the altered blood-forming cells, the mice continued to produce gamma-globin in their red blood cells.

With gene therapy, the mice were able to produce their own normal gamma-globin. And there’s more. Transplanting the altered blood-forming cells from the treated mice into a second-generation sickle cell mice showed that the second generation also corrected their disease!

Again, this is in mouse models, so there’s caution in celebration. But it’s a potential eh?

Sickle cell anemia is an inherited disease caused by a mutation in a single nucleotide of the B-globin gene that unfortunately changes the resulting amino acid from glutamate to valine. That single change creates abnormal hemoglobin that causes red blood cells to form "sickle-shape". The sickle cells block blood vessels and don’t carry enough hemoglobin for the body’s requirement, leading to various medical complications.

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Bioreactor increases interleukin-12 production in genetically modified tobacco

This new study is along the lines of vaccine-producing bananas.

One of the best uses of genetic engineering of plants is producing rare proteins with medical use in larger quantities. Interleukin-12 is one of those proteins that our bodies produce in regulated quantities, but is very essential for the function of the immune system. Certain immune diseases are the result of having either too little or too much interleukin-12. If scientists can harness enough of the protein for research and therapeutic development, then perhaps certain diseases can be controlled better.

New findings published in the journal Biotechnology and Bioengineering found a way for interleukin-12 to be produced artificially inside genetically-modified tobacco in a more efficient way using nutrient mist bioreactors.

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Genetics and Health Showroom for your holiday gift ideas

The day after Thanksgiving is the most important holiday before Christmas. It’s our signal to start shopping for holiday gifts!

But what do you give someone who is crazy about genetics?

Well, my friend, you came to the right store, if you need a gift for any of the following reasons:

• The holidays! What better way to say Merry XX-Mas! (or Merry XY-Mas!)
• Birthdays and anniversaries, graduate fellowships, employment, promotions, new discoveries, grant approval, postdoctoral work and all the major accomplishments in life!
• Something for your boss; your boss’ boss; your professor; your department head and all the important people who can sign your papers!
• Something for your laboratory head, technicians, the statisticians and programmers, and everyone who makes your life easier.
• Something for your classroom, art walls, bare walls, bathroom walls? and other walls you want jazzed up!
• and don’t forget YOU. You deserve to have the best.

Genetics and Health Showroom has everything most of what you want (shameless promotion) for gift ideas of all occasion.

For starters, your own DNA in Portrait. Yup, submit a cheek swab and DNA 11 will send you a printed canvas of your genetic material. Check out a sampling from the Gift Guide.

Happy Black Friday!

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Comment Policy on Genetics and Health

Thanks for commenting on Genetics and Health.

I appreciate each comment that you leave on on this blog and really would want to see a strong community for both health junkies, students and people needing medical/genetic issues/information.

For everyone to know they can trust this site to be a clean and welcoming place to get involve, I’m putting together a COMMENT POLICY that I will strictly enforce.

• I love to know what you think and so welcome your comments, ideas, inquiries and musings.
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We can all make Genetics and Health a great community!

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Someone please make the cold vaccine already!

For all of man’s scientific prowess and evolutionary advancement, we are the helpless victims of this sneaky little villain. Cold viruses have very few genes, so they have one purpose and one alone - to make our lives miserable!

So we hack, snort, sneeze and feel awful until this prokaryote decides it has enough of us. There is no cure. We can treat the symptoms, sure, but we’re not fighting the virus. We’re simply "letting it run its course" and that really sucks, right? Here is man, the mighty Goliath, and this puny David of a virus swings at us and down we go, crying for our mommies.

The latest research found that it’s not the rhinovirus that causes the cold symptoms. Rather our immune response goes into "overdrive" because this viral infection. Great. The scientists believe the ideal treatment should "maintain body’s natural antiviral response while normalizing the inflammatory response."

Cool. Meantime, excuse me for the infrequent posting while my body goes into overdrive as the cold virus continues to taunt and bring havoc to my existence.

image: Wikimedia

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