Showing posts with label mutation. Show all posts
Showing posts with label mutation. Show all posts

Saturday, April 26, 2008

Unscientific Art


Found on BoingBoing.
"Science painter Cornelia Hesse-Honegger collects and paints mutant bugs in the vicinity of irradiated wastelands like Chernorbyl, around nuclear plants, and nuclear refining sites."
Here is a link to the title page of this work.
Awesome paintings of messed up bugs. Too bad that's pretty much all it is, and claims that the observed mutant phenotype of the insects has something to do with radiation from nuclear power plants is probably just to attract some attention to the great artwork.
I love entomology and genetics so otherwise this would have been really cool with some statistics and some controls.


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Wednesday, January 16, 2008

Hamiltonians are Mutants

A new study published in PNAS (open access) takes a look at the health implications of exposure to particulate air pollution. In this particular study, mice were caged near 2 steel mills and a major highway in the Hamilton, Ontario area and exposed either to ambient air, or the same air passed through a HEPA filter to remove particulate pollution.

When exposed to Hamilton air (but not HEPA filtered air) for 10 weeks (followed by 6-weeks recovery in the lab), the mice had a 1.6-fold increase in sperm mutation frequency and an increase in global methylation of germline DNA. From the article:
"We have demonstrated that exposure of inbred mice to particulate air pollution near two integrated steel mills and a major highway caused tandem repeat DNA mutation and hypermethylation in spermatogonial stem cells. [...] The overall implications of these findings for the health of humans are unclear. Heritable mutation, germ-line DNA damage and epigenetic modifications have the potential to affect disease incidence in the descendents of exposed individuals. In addition to its potential importance in the maintenance of genome stability, appropriate methylation of DNA is critical for imprinting, regulation of gene expression, mammalian development, and disease."

No word yet on whether any of these mutations conferred super-powers.


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Tuesday, November 13, 2007

A good time to be a gene hunter

Two interresting mutations have popped up this week. Unfortunately neither will turn you into a hero...


This man has some kind of mutation which rendered his immune system unable to control the warts growing as a result of an HPV infection. Another reason to get the HPV vaccine! The doctors have proposed to use high doses of vitamin A to stop the warts, and remove the rest by surgery.


This 7ft tall 12 year old, had all his teeth by 4 months and was already has big as a 12 year old by the time he got to kindergarden. This is not a case of gigantism, which occurs because of pituitary tumours excreting too much growth hormone, rather this seems to be a new kind of mutation. Joining the 50 or so different genetic syndromes which cause excessive growth such as:

"Extra sex chromosomes (beyond the normal two) with therefore extra copies of the SHOX gene (beyond the normal two) usually results in enhancement of height growth. The most common of these karyotypes are 47,XXY (Klinefelter syndrome), 47,XYY, and 47,XXX. The added height increment is usually modest.

A very rare but more extreme version of "eunuochoid" tallness occurs when a mutation of the estrogen receptor reduces the response of the bones to estradiol. Estradiol is a byproduct of testosterone in both males and females, and is the most potent accelerator of bone maturation and closure known. If a person fails to respond to estrogen, growth can continue until late-20s or longer, and the affected person can reach 8 feet or more in height. Estrogen resistance is the only other endocrine condition that can rival growth hormone excess in producing gigantism. In contrast, the tallness associated with the more common androgen insensitivity syndrome averages only a few inches, as estradiol is not produced directly but rather through conversion from androgens by aromatase.

Marfan syndrome is an uncommon genetic disease due to an inherited defect of connective tissue. In addition to moderate tallness, persons with this condition usually have a slender body build with unusually long fingers (arachnodactyly). Many can also develop a dislocaton of the lens of the eye or, more seriously, a progressive deterioration of the walls of the aorta which can result in sudden death in adulthood. It is usually inherited as an autosomal dominant trait.

Sotos syndrome resembles acromegaly in its mild distortion of facial growth. In addition to tallness, the chief characteristics are large head size, slow development, and autosomal-dominant inheritance."


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