Genetics & Molecular Biology
Hemophilia is caused by a genetic defect that inhibits the body's ability to control blood clotting. The two forms of the disease — hemophilia A and B — are associated with the absence of proteins called factor VIII and factor IX, respectively.
The disease affects millions of people and is sometimes untreatable due to patients' immune systems rejecting the standard treatment--infusion with a protein that helps the blood to clot.
To help patients tolerate therapy, doctors try to exhaust patients' immune systems by administering the therapeutic protein intravenously at frequent intervals and for long periods until the body no longer responds by producing inhibitors. While that brute force approach works
Mark Ptashne, Oliver Hobert, and Eric Davidson talk sense on epigenomics
We were astonished to see two sentences in your Editorial on the International Human Epigenome Consortium (Nature 463, 587; 2010) that seem to disregard principles of gene regulation and of evolutionary and developmental biology that have been established during the past 50 years.
I've heard a senior colleague say that there is nothing fundamental left to be discovered in biology. It's a nagging worry some people have, including myself. What's left, according to some (including one of molecular biology's founders Sydney Brenner), is to work out the details of particular systems, implied by already established paradigms - kind like chemistry.
Protein phosphorylation, the process by which proteins are flipped from one activation state to another, is a crucial function for most living beings, since it controls nearly every cellular process, including metabolism and gene transcription.
Our genes may not be the basis for human individuality, according to new studies in Science and Nature. The key may actually lie in the sequences that surround and control our genes.
The interaction of those sequences with a class of proteins, called transcription factors, can vary significantly between two people and are likely to affect our appearance, our development and even our predisposition to certain diseases.
The discovery suggests that researchers focusing exclusively on genes to learn what makes people different from one another have been looking in the wrong place.
Information processing and entropy management - that's what organisms are about, right? Information and entropy are terms that get people excited, and yet it's extremely difficult to integrate formal ideas about information, free energy, entropy, etc. (much of this from modern statistical mechanics) into a meaningful biological framework. People (including myself) love to toss around terms like entropy and information, but in most cases I have encountered, efforts to apply these concepts to molecular/cellular biology are hopelessly vague and unhelpful. Once you get beyond the level of individual proteins in biology, it's difficult to apply some of the traditional concepts of physical chemistry.
Sean Carroll at Cosmic Variance on Entropy and the Meaning of Life
We know that entropy increases as the universe evolves. But why, on the road from the simple and low-entropy early universe to the simple and high-entropy late universe, do we pass through our present era of marvelous complexity and organization, culminating in the intricate chemical reactions we know as life?...
In a report published in the Proceedings of the National Academy of Sciences, researchers from The Wistar Institute suggest that mice that lack the p21 gene gain the ability to regenerate lost or damaged tissue.
The team says their findings provide solid evidence to link tissue regeneration to the control of cell division.
Unlike typical mammals, which heal wounds by forming a scar, these mice begin by forming a blastema, a structure associated with rapid cell growth and de-differentiation as seen in amphibians. The loss of p21 causes the cells of these mice to behave more like embryonic stem cells than adult mammalian cells
Researchers at the University of Minnesota have created a molecular image of a system that moves electrons between proteins in cells. The achievement is a breakthrough for biology and could provide insights to minimize energy loss in other systems, from nanoscale devices to moving electricity around the country. The research was published this week in Science.
Physicians have long recognized that pinpointing specific causes of disease in individual patients enables therapies that are the most likely to confer benefit with the fewest adverse effects. We also recognize the potential for disease prevention through identification of specific risk factors and mitigation of their effects. For a century, we have known that many of these risk factors are genetic. In the past 20 years, the genomic revolution has translated this knowledge into a new understanding of disease: mutations that cause more than 2000 mendelian diseases have been identified, which has led to the rewriting of textbooks of pathophysiology of every organ system and the identification of rational targets for therapeutic intervention.