News this week from the rarified realm of science research is both interesting and far-reaching. And no, by far-reaching I’m not talking about discovery that the planet Saturn has a huge, invisible ring nobody noticed before.

In the field of physics, some may have heard of Paul Dirac’s postulated magnetic monopoles – the quantum of the magnetic force, with a single pole instead of two. Dirac postulated that these must exist, and led to his famous ’strings’ (which eventually led to some current GUT models). But nobody has ever actually ’seen’ a monopole, so it’s been an open question of whether such beasties exist. Now, an NIST research team believe they’ve found the next best thing, monopoles the size of molecules!

They of course aren’t real monopoles, but apparently behave the same predicted way. Thus these synthetic compounds could allow scientists to do further research in the lab rather than just on paper napkins. They will be testing monopole predictions with these spin ice molecules, such as whether the postulated particles obey Coulomb’s Law. Stay tuned, this could get fascinating quickly!

Next up is a study about the ubiquitous BPA body burdens 93% of us carry around these days. BPA is a common chemical found in some plastics and epoxy resins. A paper published in Environmental Health Perspectives this week from researchers at Simon Fraser University, UNC-CH and Cincinnati Children’s Hospital linked prenatal BPA exposure to unusually aggressive, hyperactive behavior in 2-year old girls.

Neurodevelopmental disorders – ADD, ADHD, the Autism spectrum, etc. – have been most prevalent in young boys, who represent some 80% of the diagnoses. Further research on this environmental contaminant should be watched, as if the connection is solid, we can expect more and more young girls to suffer the same sorts of problems. BPA has also been linked to fertility problems, growth retardation and learning disorders as well as permanent changes to DNA in mice.

Speaking of Autism’s spectrum of neurodevelopmental disorders, researchers from MIT and the Center for Human Genetic Research at Massachusetts General Hospital have discovered that a single letter change in DNA may be indicative of Autism. This is known as a Single Nucleotide Polymorphism [SNP], and researchers tied it to chromosomes 5, 6, 20. The gene on chromosome 5 is associated with neuron development and autistic children showed lower expression.

This is just one piece of what researchers expect is a highly complex genetic puzzle, but it might lead to tests that can identify those at risk of producing autistic children, and identifying it in children very early. It also could help lead to specific treatments in the future. Progress is being made at last in dealing with this spectrum as a real medical condition and not just an indicator of lousy parenting skills. Which has been one of the most hurtful urban myths ever propagated by people who had no idea what they were talking about. That some of them were psychologists and physicians is sad, so we can all be thankful that some real answers are coming in.

For something different and profound, consider the case of a baby girl named Lali born near New Delhi, India on March 11. She has a rare birth defect called diprosopus that gave her two faces on one head. ABC News reported that the resident medical officer of the Saifi Hospital where Lali was born has thus far been unsuccessful in his attempts to convince the parents to allow CT scans or MRI to determine whether there are duplicated internal organs or invisible, life threatening deformities that might be corrected by surgery.

Most babies with this condition are stillborn or die shortly after birth, but Lali so far has shown no breathing or digestion difficulties, both mouths are being fed. She was born normally and left the hospital with her mother 8 hours after birth.

This condition is not technically a case of cojoined twinning, where a single embryo duplicates and does not completely separate. Rather, it is due to malfunctioning in the developing embryo of a single protein called Sonic hedgehog homolog [SHH]. SHH protein governs the width of the face and features, and governs proper development of the brain and spinal cord via a signaling cascade.

Very few two-faced animals (including humans) have survived, usually due to abnormalities of brain or internal organs. The most famous – until now – was a pig named Ditto who finally died from not being able to coordinate his breathing and swallowing.

As interesting as the specific cause and spectacular physical results are, the socio-cultural issue is just as phenomenal. It could be argued that the parents (poor villagers and farm workers) should be forced to allow the medical tests that would determine the extent of deformities not apparent on the outside, but in their situation one might as easily ask “what for?” So long as the baby is in no distress, why interfere?

In her home country Lali is considered to be a reincarnated goddess, one of Ganesh’s manifestations. Hindus from all over the country and world are making pilgrimages to touch her feet, and giving offerings toward her tender care and blessings. Worship is simply not the same sort of thing as a carnival freak show.

Also consider that in India the practice of female infanticide is rampant because couples want sons, not daughters. In this particular case, the girl-child is a great blessing from heaven, with an entire village to protect and defend her! That may be the best way to live a life (no matter how long or short), given what the child has been given.

While it would be great if medical researchers and biologists could trace the specifics of the abnormality, if we could know if Lali has two brains, and whether some environmental toxin in the parents’ rural farming region may have caused the situation, it’s okay for the people in this child’s life to treat her like a goddess.

Links:

Baby with 2 faces born
Baby With Two Faces Doing Well
Will Baby Survive?

The scary take-home lesson from the 2004 documentary Super Size Me has some new scientific confirmation from recent research at the Max Planck Institute for Evolutionary Anthropology, though evidence that a fast food diet leads to liver problems and obesity wasn’t what the researchers set out to find.

You Are What You Eat is about research that found – using mice instead of chimpanzees or humans – that some of the obvious differences between humans and chimpanzees can be attributed to the differences in our diets.

The research was published in PLoS One 3(1): e1504 entitled “Somel M., Franz H., Mueller U., Lachmann M., et al (2008) Human and Chimpanzee Gene Expression Differences Replicated in Mice Fed Different Diets.

They fed lab mice one of three different diets for two weeks – raw fruits and vegetables, Institute cafeteria food, and straight McDonalds junk. The fresh fruit and veggies diet differed very significantly on liver effects of the other two diets, which caused thousands of gene expression changes. The McDonalds mice also got fat. The conclusion?

“A significant fraction of the genes that changed in the mouse livers had previously been observed as different between humans and chimpanzees. This indicates that the differences observed in these particular genes might be caused by the difference in human and chimpanzee diets.”

The researchers also noted that these genes appear to have evolved faster than other genes, possibly because of adaptation to new diets. I could not find any indication in the article that humans who go raw vegan become chimpanzees, or that chimpanzees fed cafeteria food or fries and shakes become human. But it is quite interesting that diet alone can significantly affect gene expression (and evolution). Seems that evolutionary biology may have to include diet-caused gene changes as yet another mechanism for generating biodiversity.

With the melodic strains of Ernie’s Greatest Hit “Rubber Ducky” echoing my head, fans will be delighted to know that the dynamic duo created by Jim Henson and Frank Oz in 1969 as stars of the famous Sesame Street educational program have even more to do with brain development that originally thought!

Research published in the January 10 online issue of PLoS Biology reports A Mechanism Regulating the Onset of Sox2 Expression in the Embryonic Neural Plate has been discovered.

The neural plate is a region of the ectoderm cells in early embryo development that gives rise to the entire central nervous system in vertebrate embryos. The earliest molecular marker that cells in this plate are beginning to differentiate into their respective neural types is the transcription factor known as Sox2. The researchers, from University College London, the Université de Lyon and CNRS/INRA in France and the Wellcome/Cancer Research UK Gurdon Institute for Cancer and Developmental Biology in Cambridge, found specific protein interactions that regulate the expression of N2, the earliest enhancer of Sox2. N2 directs Sox2 expression to the largest part of the neural plate.

The three coiled-coil domain proteins are ERNI, Geminin and BERT. Both BERT and ERNI also control when different organ systems in the developing embryo begin to form. Because just a few signals instruct cells to form the thousands of different cell types, timing is everything. The researchers describe a sequence of reactions that take place when the embryo is just a few hours old, which together act as a timing mechanism for developmental expression. The development of neural cells is repressed for a time so that other cells in the embryo that will develop into internal organs and skin get a head start on the central nervous system. To make this happen BERT binds to ERNI and other proteins that unblog the expression of Sox2 at just the right time to begin development of the brain and nervous system.

The discoveries and new understanding of how this signaling works in very early embryo development will have significant implications for stem cell research, which hopes to discover the biochemical signals that tell a stem cell what to become. One of these days – I’m hoping in my children’s generation – it may be possible for people with heart, kidney, liver or lung disease, spinal cord or brain injuries to “grow their own” new organs and neural cells from stem cells.

Links:

A Mechanism Regulating the Onset of Sox2 Expression in the Embryonic Neural Plate

Two Proteins, Called BERT and ERNI, Control Brain Development

There have been quite a few recent news reports about research shedding new light on human evolution. Some of it’s in the realm of those interminable Just-So stories biologists never seem to tire of (despite the notable fact that those Just-So stories change regularly according to who’s doing the storytelling today), but some of it’s darned good science.

First up is the newer, better Tale of The Simple Reason Helps Males Evolve More Quickly than females. This one’s particularly entertaining, as Just-So stories go. It comes from researchers at the University of Florida Genetics Institute, to be published in the Proceedings of the NAS. Spokes-researcher Marta Wayne explains it thusly:

“It’s because males are simpler.”

Well Duh. Of course, Wayne explains the long known fact that male inheritance involves simpler genetic architecture as compared to females. No doubt such as the fact that a woman gives birth to the female’s contribution to genetic inheritance of her granddaughters when she gives birth to a daughter. But you’ve just gotta love the conclusion, drawn from research on the ubiquitous fruit fly:

“Researchers believe this relatively uncomplicated genetic pathway helps males respond to the pressures of sexual selection, ultimately enabling them to win females and produce greater numbers of offspring.”

See? Very simple reasoning by those very simple males. Who said biological processes were highly complex?

More interesting (if you’re following the science) is the finding by researchers at UC Santa Cruz that Ancient Retroviruses Spurred Evolution of Gene Regulatory Networks in Humans and Other Primates. This quantifies part of the estimated 8% of the human genome that consists of endogenous retroviral DNA insertions.

This research highlights relatively recent knowledge that gene regulation – controlled by “master gene regulators” orchestrate gene expression profiles in higher vertebrates. By virtue of these expression networks species that have very similar genomes – like humans and chimpanzees – can still exhibit striking morphological differences.

The retroviral elements – “jumping genes” – jumped into new positions throughout the human genome and spread numerous copies of repetitive DNA sequences that allowed the master regulators to extend their networks. The researcher further found that these changes occurred only in the primate lineage through retroviruses that were primate specific, and are not found in mice.

As has become usual of late, the researchers conclude that their findings challenge the status of so-called “junk DNA,” which may not be nearly so junky as previously assumed. The research also challenges conventional evolutionary wisdom that small changes – point mutations – in the genetic code are the driving force of evolution. It now appears that there is a whole other level of evolution that occurs via changes to gene regulation and expression. Very interesting indeed!

Finally, research from the University of Toronto’s Centre for Cellular and Biomolecular Research has revealed more about why humans differ so much from chimpanzees despite their 99% identical genomes, in Humans and Chimps Differ At Level Of Gene Splicing.

The differences now appear to reside not in the DNA coding for proteins, but in how the genetic material is spliced to create proteins. Splicing is how the coding regions of genes are joined to create specification for protein synthesis. Splicing can occur in alternative ways, allowing the same DNA to generate more than one type of protein. These new findings show that the alternative splicing process differs significantly between humans and chimpanzees.

Now, THAT is very interesting too!

Links:

Simple Reason Helps Males Evolve More Quickly

Ancient Retroviruses Spurred Evolution of Gene Regulatory Networks in Humans and Other Primates

Humans and Chimps Differ At Level Of Gene Splicing