Genetics & Molecular Biology

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.
Thimios Mitsiadis, Professor for Oral Biology at the University of Zurich, says he has shown that  during tooth formation (odontogenesis) if the Jagged2 gene is inactivated, and thus the Notch signaling pathway is interrupted, tooth crowns will be malformed and enamel will be lacking.

Signaling pathways cells react to signals from their environment and one of the most important signaling pathways is the Notch signaling pathway. It is evolutionary conserved to a very high degree and it is involved in the development of all organs and tissues in animal and human embryos.
In a new Cell study, researchers say they have uncovered a new role for an essential cell protein polynucleotide phosphorylase (PNPASE) in shuttling RNA into the mitochondria, the energy-producing 'power plant' of the cell.

The import of nucleus-encoded small RNAs into mitochondria is essential for the replication, transcription and translation of the mitochondrial genome, but the mechanisms that deliver RNA into mitochondria remain poorly understood.
John Mattick, University of Queensland, is one of the leading proponents of the idea that much -- perhaps most -- of the human genome is functional. He has been making claims along these lines for at least 15 years, but seems to always present it as a new idea. Readers of this blog may also remember the Dog's Ass Plot included in one of his publications.