Copy Mutation Possibly Responsible For Human Brain Growth

[JimBowie1958]

Did a copying mistake build man's brain? | Fox News

The researchers studied one specific gene, called SRGAP2, which they think has been duplicated at least twice during the course of human evolution, first about 3.5 million years ago and then again about 2.5 million years ago.

The second, more recent, duplication seems to be incomplete, with only part of the gene being duplicated. The researchers think this partially duplicated gene is able to interfere with the actions of the original, ancestral copy of SRGAP2. When the researchers added the partially duplicated gene copy to the mouse genome (mice don’t normally have it) it seemed to speed the migration of brain cells during development, which makes brain organization more efficient.

These cells that expressed the incomplete duplication of SRGAP2 also had more "spines" — knoblike extensions on the cell surface that connect with other brain cells, which make them look more like human brain cells.

Interestingly, the incomplete copy of the gene seems to have showed up just as the extinct hominin Australopithecus made room for the genus Homo, which led to modern humans. That's also when the brains of our ancestors began to expand and when dramatic changes in cognitive abilities are likely to have emerged.

Cool beans. Seems to reinforce the idea that humans had a sharp departure from other apes for our brain capabilities and this may have led to speech, burial of the dead, more developed stone tools, etc.

God has designed a marvelous universe.

 

[waltky]

A first for Europe...

Gene therapy nears approval in Europe
20 July 2012 - Gene therapies alter a patient's DNA

Europe is on the cusp of approving a gene therapy for the first time, in what would be a landmark moment for the field. Gene therapies alter a patient's DNA to treat inherited diseases passed from parent to child. The European Medicines Agency has recommended a therapy for a rare genetic disease which leaves people unable to properly digest fats. The European Commission will now make the final decision. The idea of gene therapy is simple: if there is a problem with part of a patient's genetic code then replace that part of the code. The reality has not been so easy. In one gene therapy trial a US teenager, Jesse Gelsinger, died, and other patients have developed leukaemia. There are no gene therapies available outside of a research lab in Europe or the US.

Gene change

The European Medicines Agency's Committee for Medicinal Products for Human Use has considered the use of Glybera to treat lipoprotein lipase deficiency. One in a million people have the deficiency. They have damaged copies of a gene which is essential for breaking down fat. It leads to fat building up in the blood, abdominal pain and life-threatening pancreatitis (inflammation of the pancreas). The only way to manage the condition is by having a very low-fat diet. The therapy uses a virus to infect muscle cells with a working copy of the gene. It was recommended for patients with severe pancreatitis, who cannot control the disease through diet.

'Afraid of a normal meal'

The manufacturer, UniQure, said the decision was a "major breakthrough" for patients and medicine as a whole. UniQure chief executive officer Jorn Aldag said: "Patients with lipoprotein lipase deficiency are afraid of eating a normal meal because it can lead to acute and extremely painful inflammation of the pancreas, often resulting in a visit to intensive care. "Now, for the first time, a treatment exists for these patients that not only reduces this risk of getting severely sick, but also has a multi-year beneficial effect after just a single injection. "Restoring the body's natural ability to break down fat particles in the blood, in order to prevent pancreatitis and excruciating abdominal pain suffered by patients, is what gene therapy is all about: curing disease at the genetic level." Dr Tomas Salmonson, from the agency's Committee, said the use of Glybera should be restricted to patients "with greatest need". China was the first country to officially sanction a gene therapy.

BBC News - Gene therapy nears approval in Europe