Michael Jackson May Have Had Genetic Lung Disease Alpha-1 Antitrypsin Deficiency

by Dr. Hsien-Hsien Lei
Posted June 29, 2009 in Personalities with DNA

Did Michael Jackson have alpha-1 antitrypsin deficiency? In December 2008, rumors surfaced from a biography by Ian Halperin that Jackson needed a lung transplant because he had alpha-1 antitrypsin deficiency (A1AD).

Alpha-1 antitrypsin (AAT) is a protein produced by the liver that acts to protect various organs including the lungs. When a person inherits A1AD, their body produces proteins that are deformed which can also lead to liver disease. An estimated 1 in every 1,600 people to 1 in every 5,000 people have A1AD.

DNA tests for A1AD are available that look at alleles of the SERPINA1 gene (see Genetics Home Reference). People with two copies of the M allele (MM) have normal levels of AAT. Those with two copies of the Z allele (ZZ) are at highest risk of developing severe symptoms including lung disease and liver disease especially if they smoke.

Other illnesses Jackson may have suffered from:

• Flesh eating disease caused by a staph infection following cosmetic surgery.
• Skin cancer
• Costochondritis, inflammation of the cartilage at the front of the ribs
• Addiction to painkillers
• Vitiligo, an autoimmune disorder that affects the pigment-producing cells of the skin
• Abnormal heart rhythm
• Anxiety
• Back spasms

Autopsy results may or may not tell us whether Michael Jackson had A1AD or other inherited disorders. Hopefully he was receiving any treatments he may have needed.

NZ Herald News, USA Today 

(Testing the blogging waters….)

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Twin DNA Foil Investigators Again

by Dr. Hsien-Hsien Lei
Posted March 21, 2009 in DNA and the Law

Two years ago, identical twin brothers Raymon and Richard Miller both had sex with the same woman who became pregnant. The court decided Raymon was the legal father although the DNA paternity test couldn’t provide definitive proof.

In February, millions of dollars worth of jewelry was stolen in Berlin. Two of the suspects are identical (monozygotic) twins, Hassan and Abbas O. DNA analysis showed that one or both of them were probably at the scene of the crime but it’s impossible to tell. If only one of the brothers is guilty, investigators can’t tell for sure which one it is.

In reality, identical twins do not have perfectly identical DNA due to epigenomic chemical modifications and DNA copy number variations. But until more sophisticated DNA analyses become more widely available or other evidence comes to light, Hassan and Abbas are free and have not been charged. (Spiegel Online via Boing Boing)

Identical twins be forewarned. You may be able to get away with it now, but your time is coming.

NB: In Malaysia, investigators were unable to figure out which one of a pair of identical twins trafficked 166 kilograms of cannabis and 1.7 kilograms of opium. A judge dismissed the case and both twins were set free. (Telegraph)

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Regulatin’ Genes Video

by Dr. Hsien-Hsien Lei
Posted March 18, 2009 in DNA Fun, DNA Podcasts and Videos

With a cameo from my favorite Stanford professor, Robert Siegel.

(>> Start a discussion!)

Yay or Nay for Genetic Testing?

by Dr. Hsien-Hsien Lei
Posted February 28, 2009 in DNA Testing

Today, CNN featured Dr. Robert Superko at St. Joseph’s Hospital in Atlanta, Georgia who is recommending genetic testing to patients at risk for cardiovascular disease.

Dr. Superko:

If you have heart disease and you have one of these heart disease genes, then the likelihood that is contributing to your problem is very high. If [the testing] gives you a therapeutic direction, a diet or drug to take, then it becomes valuable.

But he is not making a rare endorsement of direct-to-consumer testing:

It is easy to get confused about test results, especially those received through the mail. You may not understand what they mean and you can get unduly concerned.

Basically, it’s yay for genetic testing if you go through your doctor and nay for genetic testing if  you don’t.

Although, his patient, Donna Mitchell, might not agree:

I think you need to take advantage of everything you can to prevent problems. [Genetic testing] was a no-brainer for me.

(1 comment)

American Clinical Laboratory Association Tips for Consumers of Genetic Tests

by Dr. Hsien-Hsien Lei
Posted February 25, 2009 in DNA Testing

Thinking about purchasing a genetic test? The American Clinical Laboratory Association (ACLA) recommends that consumers ask the following six questions:

1. Is the test done in a medical lab certified under the Clinical Laboratory Improvement Amendments (CLIA)?

2. Is a genetic counselor, physician or other knowledgeable health professional available to assist you in selecting tests and interpreting results?

3. Do the claims seem hard to believe?

4. Are other products, such as nutritional supplements, being sold along with the test?

5. Are you willing to be “an informed” consumer — that is, take the time to understand what genetic testing tells you?

6. Does the provider of the service offer adequate assurances that your genetic information will be kept private and secure?

The ACLA’s educational campaign “Results for Life” also has an informative storyboard about genetic tests (pdf) and how personalized medicine can help with each stage of diagnosis and treatment to predict, screen, diagnose, select treatment, and manage the disease.

(>> Start a discussion!)

Navigenics Introduces Physician Portal and Annual Insight Service

by Dr. Hsien-Hsien Lei
Posted January 29, 2009 in DNA Products, DNA Testing

Consumers of genetic testing now have two new services to consider from Navigenics.

From the press release:

Navigenics’ Physician Portal

…Navigenics has developed the ability for physicians, with the approval of their patients, to receive and easily review patient genetic results online, with easy access to condition information, action steps, and original scientific research. Access to the physician portal is free to physicians who register their practices.

Annual Insight Service

Navigenics’ Annual Insight service retails for $499 and analyzes an individual’s genetic predisposition for ten common health conditions (nine each for men and women), including breast cancer, prostate cancer, colon cancer and heart disease.

Annual Insight also includes one hour of genetic counseling and if the consumer chooses to upgrade, the cost can be applied to the more comprehensive Health Compass service that includes a genome-wide scan, 24/7 genetic counseling, and ongoing updates for $2500.

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Eye on DNA Interview: Dr. Tzung-Fu Hsieh of RedTracer DNA Test for the Red Hair Gene, MC1R

by Dr. Hsien-Hsien Lei
Posted January 26, 2009 in DNA in General

In a world where parents can test their children for genetically-endowed academic and sports ability, no DNA test should come as a surprise. One of the most recent genetic testing product to be introduced is the RedTracer DNA Test at MyRedHairGene.com. For $119, an individual sample of DNAcan be tested for variants of the red hair gene, MC1R. For an analysis of two samples, the price is $214. I recently had the chance to interview Dr. Tzung-Fu Hsieh about RedTracer DNA.

~~~~~~

Dr. Tzung-Fu Hsieh: First off I want to thank you for giving me this opportunity to talk about our new genetic test. We hope that this kind of fun genetics test will help people learn a little bit about themselves and get them excited about their genetics and genetics in general.

Hsien: What is the company’s motivation for offering the RedTracer DNA test?

Tzung-Fu: We were first introduced to MC1R gene variants and their association with red hair color by Dr. Barry Starr from the Tech Museum of Innovation at San Jose a few years ago. Back then, Dr. Starr was interested in a possible public project for looking at the diversity of MC1R gene variations among museum visitors in a classroom setting as a mean to bring awareness of genetic diversity to grade schoolers. The MC1R gene is a perfect marker because of its unusually high diversity and association with hair and skin colors. Even though the project did not materialize due to some logistical and budgetary issues, we kept the project going by analyzing several carrier families as well as performing occasional requests for such services. 

Many parents became aware of and got interested in red hair biology after having a redheaded baby. Similarly, Dr. Starr’s interest in the MC1R gene came about because one of his three children is a redhead. Our testing analyses confirmed that both he and his wife carry a red hair causing variant of the MC1R gene. Through this collaboration, we started getting requests from people who wanted to know if they inherited the red hair trait, what might be the chance of having a redheaded baby, etc. So we’ve known for awhile that some people were looking for such a service. We have the skill and resources to provide this service and we hope that by offering this test, we can draw people’s interests to general genetics.

Hsien: What are some medical implications for knowing whether a person is a carrier of the MC1R gene?

Tzung-Fu: You bring up a great point with this question. We all know about the dangers of skin cancer for people with fair skin that burns but doesn’t tan. What a lot of people don’t know is that being a carrier of a red variant of the MC1R gene can increase the risk for skin cancer even if the carrier has darker skin. One theory is that the increased risk happens because free radicals are made when sunlight hits the pigment responsible for red hair (phomelanin). These free radicals go on to damage DNA and ultimately cause cancer.

Hsien: In some parts of the world, redheads are discriminated against. Do you think some people might misuse the RedTracer DNA test? 

Tzung-Fu: People with red hair are discriminated in some places although at least here in the U.S., this discrimination has been disappearing rapidly. I am not sure how people might misuse this test against someone. No discrimination that I know of is state-based so it is unlikely to be used by governments as a skin color test might have been used in apartheid era in South Africa.

In fact, there are groups who are worried about the eventual extinction of redheads from the world. The risk is overblown as there will probably always be redheads in the world but a test like this might help carriers find each other to have red haired kids.

Hsien: Can you tell us more about the global database the company plans to establish?

Tzung-Fu: There are over 30 different MC1R variants reported so far. Only a handful of them are associated with red hair color. Among the rest, several of them have emerged as possibly ethnic or geographic specific. For example, Arg163Gln variant is present in 70% the East and Southeast Asian populations, but only ~4% in populations among Europeans. We hope a global database will help us accumulate enough data to identify ethnic specific variants and other new red hair causing variants.

We want to make this database freely available to people and other researchers and hope to establish an educational website around it. That way people can use their results and compare them to other people’s and maybe learn a bit about genetics.

Of course, everything will be anonymous and we will destroy DNA samples we get once the tests are completed.

Hsien: How does RedTracer DNA test compare with SNP analysis from other direct-to-consumer genetic testing companies?

Tzung-Fu: Most of the other DTC genetic tests currently available on the market look at a very small number of known SNPs, generally one or two. Other companies that offer whole genome scan analyses (e.g., 23andme, etc) rely on assaying SNPs featured on microchips. Often these chips were designed based on known SNPs listed in public domain (HapMap database, for example). The RedTracer DNA test will give customers 954 base pairs of the coding region of their MC1R gene. Our test will provide definitive information about carrier status and not simply the odds of being a carrier based on a certain SNP. Plus, who wouldn’t want to know what all the 1900 of their MC1R DNA letters look like?

To learn more about the RedTracer DNA Test, visit their website at MyRedHairGene.com.

~~~~~

On a related note, AskMen.com recently shared this tidbit about red hair:

Redheads may be aliens

There’s a conspiracy theory that redheads are alien-human hybrids. Think about it: Why did several kings and queens of Europe have red hair even though, percentage-wise, redheads are fairly rare? Why do so many Southies have red hair and speak a different language than other Boston locals?

It sounds crazy, but carrottops do have biological differences other than appearance. Redheaded women bleed longer, which is why doctors make special preparations for them in childbirth. They also have the smallest hair count on their heads, about 90,000 as opposed to 140,000 on people with blond and brown hair. That’s why Kick a Ginger Day began, just to keep these possible aliens on their toes.

via Neatorama

Photo credit: i,max on Flickr

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Books About DNA: The Crime of Reason by Robert B. Laughlin

by Dr. Hsien-Hsien Lei
Posted January 15, 2009 in Books About DNA

From Stanford Magazine about Robert B. Laughlin’s new book, The Crime of Reason: And the Closing of the Scientific Mind:

Just wait until enough people read Laughlin’s suggestion that, in addition to the open announcements of cloned animals, “It is very likely that we also got Hal (or Heather) the human. . . . There was, however, no public announcement of a cloned human, presumably because of the storm of public outrage that would have ensued.”

Is he serious? “I cannot prove it,” says Laughlin, throwing in a charming smile while emphasizing that the speculation is scientifically sound.

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What does DNA mean to you?

by Dr. Hsien-Hsien Lei
Posted January 14, 2009 in Meaning of DNA

Before I went on maternity leave, I asked fellow DNA Network members to share their thoughts on what DNA means to them. Here are a few more that I didn’t get around to posting earlier.

Jonathan Eisen of The Tree of Life:

DNA is something to sequence.

Misha Angrist of Genome Boy:

DNA: the last three digits of my cell phone number

(Bunch of smart alecks!)

Reader Khushi:

To me, DNA means a way to Demystify Nature’s Accuracy and the interdependence of the two to unfold the hidden secrets.

What does DNA mean to you? Please share your thoughts in the comments and you may be featured here at Eye on DNA!

Photo credit: Coffee cup cozy from evilsciencechick

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Genetically Modified Organisms Bring in the Cash

by Dr. Hsien-Hsien Lei
Posted January 13, 2009 in Genetically Modified Foods and Organisms

I’ve got a new post up at What’s new in life science research over at Scienceblogs:

It’s All About Money [GMO and Profits]

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