Just ahead in this issue of the Gene Genie – Gum disease: it’s not just a matter of bad hygiene anymore! Next, find out the genetic basis for why you or someone you love falls off bicycles and can’t solve puzzles. Also in this issue, unlock the secrets of human genetic variation, and read about the challenges of living with a rare genetic disorder called Pompe Disease. Learn about two chilling examples of what happens when stop codons attack our genes! Also, join the Random Word genie for an exciting plunge into the human genome. And lastly, we take a very “serious” look at the quest to unravel the God genome.
We’ll begin this issue of the Gene Genie with two articles from Berci Mesko at ScienceRoll. Near the beginning of February, Berci wrote an article on Pompe disease, a rare but serious glyogen storage disorder caused by a deficiency in the acid alpha-glucosidase enzyme. For this issue of the Gene Genie, Berci interviewed a fellow blogger named Juan Magdaraog who actually has Pompe disease. In the interview, Juan highlights some of the challenges he faces living with the disease, and also provides some insight into how treatment of his condition is progressing. In his second article, Berci tells us about the ongoing Human Variome Project (HVP). One of the problems Juan faced early on in his disease was misdiagnosis. One of the goals of the HVP is to aid physicians and patients in making more rapid and accurate diagnoses so that treatment can begin earlier and be more effective.
And in the “Everything has a genetic explanation” department, the Gene Genie presents articles from Thomas Yoon (Your Oral Health) and Hsien-Hsien Lei (Genetics & Health). First off, Thomas talks about a possible genetic basis for aggressive periodontal (gum) disease. This form of gum disease is different from the milder form you can get from not brushing and flossing regularily. Thomas points out that aggressive periodontitis is a phenotype of several genetics disorders, and then discusses some of the genes that may be involved in susceptibility to gum disease. For her submission, Hsien-Hsien Lei puts a comical spin on a recent finding that the CHRM2 gene is linked to performance on IQ tests. CHRM2 codes for a cholinerginc receptor protein, defects in which may explain some of the problems that Dr. Lei experiences in her day-to-day life ;^)
Larry Moran at Sandwalk explores two examples of what can happen when a gene acquires a premature stop codon and produces a truncated protein. Often, mutations that result in non-functional proteins are selected against and would not become established in a population. However, for various reasons (genetic bottleneck, obvious or non-obvious advantages in reproductive success), there are instances where “broken” genes pass the natural selection acid test and become widespread in a population. Larry explores this concept using the ABO gene and GULOP pseudogene as examples. The various alleles of the ABO (N-acetylgalactosaminyltransferase) gene are responsible for the A, B, and O blood groups in the human population. Larry describes the specific DNA sequence variation in the ABO gene that leads to the O blood group. In the second submission, Larry provides some evolutionary history of the GULOP (L-glucono-γ-lactone oxidase) gene. If it weren’t for this pseudogene, we wouldn’t refer to British sailors as “limies”.
My own contribution to this issue comes courtesy of the Random Word generator than I use to provide me with OMIM search terms for a non-directed meander through the human genome. My last search term was “organizer”, and this lead me to investigate the GBX2 gene. The GBX2 protein is a homeodomain transcription factor that regulates gene expression during early embryonic development. Using animal models (mouse, chick, zebrafish, amphioxus), it has been shown that GBX2 plays a crucial role in neural patterning, especially with regards to the midbrain.
We’ll end on a humourous note with a submission from Avant News. It has recently come to light that a tomb found near Jerusalem in 1980 may actually contain the bodies of Jesus, his wife and family. Film director James Cameron, who has made a documentary film about the archeological finding, claims that there is conclusive DNA evidence to support the idea that the bodies in the tomb really are those of Jesus and his family. It is beyond me how Cameron figures that DNA sequencing can confirm that this is the Jesus who many claim is the Son of God. However, if that is the body of Jesus Christ in the tomb, Avant News provides us with the formula to determine the sequence God’s DNA itself. Furthermore, the article contains a surprising phylogenetic analysis, and proposes a few useful things we could learn from sequencing the genome of an all-powerful being. Thank you Avant News for using humour to point out some of the craziness surrounding this recent news story.
Thus ends the second issue of the Gene Genie. Thanks to everyone who participated. If you have a favourite gene or disease and want the world to hear about it, please submit an article for inclusion in the next issue. Also, if anyone is interested in hosting the next issue (or one in the near future), please contact ScienceRoll at email@example.com.