The researchers also replicated the mutation identified in the gene GPT2 in lab cultures and mouse models to understand how the altered DNA cause the disease. Like the children with GPT2 mutations, developing mice with the mutations also showed reduced neural and brain growth.Spastic paraplegia is generally considered to involve a neurodegenerative cause."In addition to the relevance this has to the diagnosis of developmental disorders, and potentially therapeutics, it is also a window into how the brain develops and how the brain China aluminium awning window functions," Morrow said. Moreover, the G in the gene name stands for glutamate, an important neurotransmitter that governs how brain cells, orneurons, connect and interact.

They created models in which the mutations were induced in human cells and also in mice.The team traced a genetic mutation to chromosome 16, and they were able to find two specific mutations in GPT2. "This is a clear, new neurogenetic disorder due to mutations in GPT2," said Eric Morrow, associate professor at the Brown University in the US. Spastic paraplegia is generally considered to involve a neurodegenerative cause, Morrow said.The children, 14 in all across the two large families, typically were able to walk by age three, yet a majority lost that ability later as motor control diminished in their legs, as a condition called spastic paraplegia emerged.

Scientists have identified the genetic mutations behind a rare, unnamed neurological disorder that was identified among siblings in two families from Pakistan and Oman.In the human cells they saw that mutations led to reduced enzyme activity. The team began the investigation more than five years ago when they were studying two families in Pakistan and Oman with children whose symptoms included below-normal postnatal brain growth, intellectual disability and progressively worsening motor problems.The consequences of the mutations appear to be in leaving developing brains without biosynthetic abilities to grow properly, and to deficits in metabolites that could help prevent degeneration.

"To find a glutamate metabolising enzyme that is associated with a brain disease is an opportunity to understand how that neurotransmitter might work or bemodulated," Morrow said. The gene GPT2 is expressed in the nucleus of cells, but the enzyme it generates appears vital to metabolic pathways in the mitochondria, organelles which provide energy and biosynthetic building blocks to cells, researchers said. They also determined that the protein locates in the mitochondria. The research was published in the journal PNAS

Experts say it is one of the largest dinosaurs ever discovered. The big surprise came a few weeks after very hard work when we realised there were so many other bones there as well.The remains of the giant herbivore, which would have lived 100 million years ago, were excavated in the desert near La Flecha, 135 miles (216 kilometres) west of Trelew, by the Argentinian team.A cast and fossils from a brand new species of titanosaur, one of the largest dinosaurs ever discovered, went on display on Thursday in New York for the first time.Mark Norell, chair of paleontology at the American Museum of Natural History, said titanosaurus lived on every continent, and predicted more discoveries, particularly in relatively unexplored parts of Patagonia and Central Asia.

Paleontologist Diego Pol, who helped lead the excavations, told AFP that the discovery was a “once in a lifetime” moment. Before, experts had just a few bones.With its neck elevated, the titanosaur would have been tall enough to peer into the window of a five-story building, the museum said.2 metres) long.One femur found at the site is among five original fossils on temporary view with the China glass curtain wall Manufacturers titanosaur model in New York, before they go back to the museum in Argentina.The colossal exhibit unveiled at the American Museum of Natural History is 122 feet long.

“It’s a rather unique feeling and it’s really exciting.Experts say that young herding animals can become isolated from their group and die of stress and hunger, often near water resources.“So we couldn’t understand completely how these animals were moving around, how fast they were growing, all sorts of questions that relate to trying to understand these fantastic animals,” Pol said.The real fossils would have been far too heavy to mount, so the life-size model is made up of 3D prints made of fibreglass of the bones.A rancher initially tipped off the Museum of Paleontology Egidio Feruglio that he spotted something, but it was only when Pol’s team began digging that they realised they were onto something big.The species lived in the forests of modern-day Patagonia 100 to 95 million years ago, during the Late Cretaceous period.It comes from a species so newly-discovered that its scientific name has not yet been formally released, say the paleontologists who made the extraordinary find in 2014, in Argentina’s Patagonia region.“It’s very exciting when you’re uncovering sediment that buried an animal 100 million years ago and you’re the first person taking this femur out and bringing it for the first time back to the surface,” he said.The colossal exhibit unveiled at the American Museum of Natural History is 122 feet (37.The animal was a young adult of unknown ***, that would have weighed 70 tons or as much as 10 African elephants, the museum said. The animal was a young adult of unknown ***, that would have weighed 70 tons.”In total, 223 fossil bones from six of the creatures were discovered at the site, all young adults who died at different times from a few years to centuries apart..The story of the dramatic discovery and the new animal has been made into a BBC documentary, to be broadcast in Britain on January 24 and in the United States on PBS on February 17.

His team worked 18 months on seven different expeditions to get all the fossils from the excavation site to their museum in Argentina. The giant cast took a firm in Canada more than six months to make, based on 84 fossil bones that were excavated from the site in 2014.“It is the first time we have a fairly complete skeleton of the giant titanosaurus,” Pol told AFP.Each bone was protected in plaster during transportation, and getting a plaster jacket for the femur alone took a week with five people working eight hours a day, Pol told reporters. It is so enormous that its head and neck extend out of the room into a lobby near the elevators.They even had to build a road in the remote region to allow trucks and machinery to transport all the bones back to the museum, he added. So that was a great moment. It is so enormous that its head and neck extend out of the room into a lobby near the elevators