Genetic complexity of a single-gene disorder

Genetic complexity of a single-gene disorder
Molecular Therapy, August 2007. 15(8)

On first glance, Lesch-Nyhan’s disease (LND) might appear to be a straightforward disease: A single enzyme of the purine salvage pathway (hypoxanthine phosphoribosyltransferase, HPRT) is missing, resulting in expected increases in uric acid.
However, although biochemical studies have hinted at a role for abnormalities in dopamine metabolism, the precise mechanism underlying the neuropsychiatric phenotype of LND remains elusive.

Song and Friedmann compare the expression of more than 40,000 genes in the brain and liver of wild type and HPRT knockout mice.
Both expected and unexpected changes were found in the expression of a number of genes, revealing the genetic complexity of this supposed single-gene disorder.

Healing hearing: regeneration of sensory hair cells

The delicate sensory hair cells in the inner ear can be damaged by loud noise.

Baby Steps Toward Healing Hearing
Science. 20 February 2014

Hairy situation. Just like in human ears, the delicate sensory hairs in the rat inner ear (shown above) can be damaged by loud noise, chemicals, and infection.

There is no biological cure for deafness—yet. We detect sound using sensory cells sporting microscopic hairlike projections, and when these so-called hair cells deep inside the inner ear are destroyed by illness or loud noise, they are gone forever. Or so scientists thought. A new study finds specific cells in the inner ear of newborn mice that regenerate these sensory cells—even after damage, potentially opening up a way to treat deafness in humans.

Researchers knew that cells in the inner ear below hair cells—known as supporting cells—can become the sensory cells themselves when stimulated by a protein that blocks Notch signaling, which is an important mechanism for cell communication. Albert Edge, a stem cell biologist at Harvard Medical School in Boston, and his colleagues, attempted to identify the exact type of supporting cells that transform into sensory ones and fill in the gaps left by the damaged cells.

precision medicine

Rewards of beauty

Rewards of beauty: the opioid system mediates social motivation in humans
Molecular Psychiatry , (11 February 2014)
O Chelnokova, et al.

Facial attractiveness is a powerful cue that affects social communication and motivates sexual behavior.
Attractive people are both judged and treated more positively, reflecting the biased stereotypical notion that ‘beautiful is good’.
Indeed, beautiful faces are processed by the limbic reward system and according to the same economic principles as non-social rewards. The human reward system has a high density of μ-opioid receptors, which have an important role in affiliation and attachment.
Here, we causally test whether the healthy human opioid system mediates facial attractiveness preference.


Language and music: same syntactical neural circuits

Art Tatum

Jazz Music Activates Some Language Centers of Brain
Science. 19 February 2014

As most jazz lovers know, the high point of a concert is when the musicians let loose and improvise, “talking” to each other with their instruments.
Indeed, modern jazz owes a lot of its appeal to pioneers like pianist Art Tatum (photo above) who introduced improvisation into the art form.
Scientists have long suspected links in the brain between music and language, although just what they are isn’t clear.

In a new study, researchers recruited 11 professional jazz pianists to engage in sessions of what musicians call “trading fours”—a form of improvisation in which two soloists alternate playing four bars of music each, riffing off of each other’s spontaneous creations.
The musicians took turns having their brains scanned with a functional magnetic resonance imaging machine while playing on an all-plastic keyboard (metal parts would be attracted to the fMRI’s powerful magnet), while their partners played within earshot. The scans showed that during the sessions, parts of the brain linked to language syntax—the structural way that words are put together to make sentences—were activated; but brain areas linked to language semantics—the actual meaning of words and sentences—were suppressed.
The team concludes today in PLOS ONE that language and music partly overlap in the brain because they both employ the same syntactical neural circuits, but communicate meaning in very different ways: language verbally, and music nonverbally.
This may be why music lovers often feel keenly that they know what the musician is saying, but can’t put it into words.


September 10, 2014

A Jedi Master on the Moon

An image of the full NAC oblique looking from east to west across Icarus crater

Wait, Is That a Jedi Master on the Moon?
Science. 21 February 2014

As you scroll through images of the moon captured by the Lunar Reconnaissance Orbiter Camera (LROC), you may do a double take. Universe Today reports how Yoda has been spotted on the moon, or at least a shadow eerily similar to the great Star Wars character.
The photo was released this week by NASA’s LROC team and the shadow is believed to stem from a peak in the Icarus crater.

Keyword: pareidolia

Keeping genetic information completely secure is impossible

How to Hide Your Genome
Science. 16 February 2014

As the cost of genetic sequencing plummets, experts believe our genomes will help doctors detect diseases and save lives. But not all of us are comfortable releasing our biological blueprints into the world. Now, cryptologists are perfecting a new privacy tool that turns genetic information into a secure yet functional format. Called homomorphic encryption and presented here today at the annual meeting of AAAS, which publishes Science, the method could help keep genomes private even as genetic testing shifts to cheap online cloud services.

John Wilbanks, a privacy expert at Sage Bionetworks in Seattle, Washington, says that while cutting-edge techniques like homomorphic encryption will improve privacy, keeping genetic information completely secure is impossible.