Genetics & Molecular Biology

Proteins are the heavy lifters of cells, doing numerous tasks, but how the shape of a protein determines function remains one of the most important questions in the physics of biology.

Proteins are not the static, Lego-like objects you might see in an x-ray photograph in a textbook, they are made from long chains of amino acids scrunched into various blobs and a protein is always changing to slightly different structural arrangements due to thermal motion of its atoms. Even a modest-sized protein like myoglobin has an unimaginable number of possible arrangements of its atoms and each of these arrangements slightly changes its function.

We accept that genetics make some people smarter though few consider instead that genes may be making us dumber, but deleting the RGS14 gene in mice did make them smarter - by unlocking a mysterious region of the brain considered to be relatively inflexible, scientists at Emory University School of Medicine have found.

Bring on the psychic fans!

Premature ovarian failure (POF) is when a woman's ovaries stop working before she is 40.  Missed periods are usually the first sign of POF. Later symptoms may be similar to those of natural menopause. 

Most women with POF cannot get pregnant naturally. Fertility treatments help a few women; others use donor eggs to have children. There is no treatment that will restore normal ovarian function, though many health care providers suggest taking hormones until age 50.   According to the International Premature Ovarian Failure Association, between 1 and 4% of women suffer from POF – equivalent to between 250,000 and 1 million women in the USA alone.
Researchers say they have found 13 genes linked to human body mass.

Starting with DNA samples extracted from Icelanders' white blood cells banked in 1991 and 2002 by scientists there as part of the AGES–Reykjavik study of individuals in the general population, scientists used a customized, genome-wide profiling method dubbed CHARM (comprehensive high-throughput arrays for relative methylation) to look for regions that were the most variable, all chemically marked by DNA methylation. 

The DNA methylation analyses revealed epigenetic fingerprints which are unique to each individual and remain stable over time and may also be associated with various common traits including risks for common, complex diseases such as cancer and other conditions. 
An important enzyme that acts in the nervous system may lead to new treatments for conditions such as Alzheimer's and Parkinson's disease.

Our cells contain a network of tubes known as microtubules that are made of protein and serve as tracks for the shuttling of materials from one part of the cell to another.   Microtubules in parts of neurons in the brain that send signals, for example, are loaded with chemical additions called acetylation marks. Microtubules in parts of neurons that receive signals, on the other hand, have few. 
A research team says they have discovered one of the key drivers of human evolution and diversity, accounting for changes that occur between different generations of people.

Professor Alec Jeffreys, who discovered DNA fingerprinting at the University of Leicester in 1984, and has spent the decades since investigating what he describes as "pretty bizarre bits of DNA" - highly variable repeated parts of DNA called 'minisatellites' - found in the human genome. Jeffreys observed that these seemed to be changing and "picking up mutations at an extraordinary rate" when compared to other DNA.
Scientists at the universities in Tübingen and Mainz say they have developed a blood test that can provide conclusive proof of gene doping - even after 56 days.

To date, it has been impossible to prove that an athlete had undergone gene doping but they say the new test provides a clear answer based on whether or not transgenic DNA is present in blood samples. Transgenic DNA (tDNA) does not stem from the person being tested but has been transferred into their body, often via viruses, in order to create performance-enhancing substances such as erythropoetin (EPO) for forming red blood cells. 
The human genome is the home of over 3 billion nucleotide base pairs packaged into 23 chromosome pairs. But despite the tremendous size of the human genome, only 1-2% of genome actually encodes for proteins.
Researchers at the Buck Institute for Age Research writing in the journal Stem Cells say they have successfully used human induced pluripotent stem cells (iPSCs) to treat rodents afflicted with Parkinson's Disease (PD).

They say the research validates a scalable protocol that the same group had previously developed and can be used to manufacture the type of neurons needed to treat the disease and paves the way for the use of iPSC's in various biomedical applications. 

iPSC research has come strongly into play during the last few years because of limitations on human embryonic stem cell research in the Bush and Obama administrations and are a hot topic among scientists focused on regenerative medicine.
Researchers at the RIKEN Center for Developmental Biology say they have unraveled the mystery of why human embryonic stem (ES) cells and induced pluripotent stem (iPS) cells undergo apoptosis (programmed cell death) when cultured in isolation, a discovery that promises new hope to sufferers of debilitating degenerative diseases.