New clues
Muliple mutations of a single gene lead to the accumulation of a protein in motor neurons that causes death.
Mutations in a single gene could be the basis of amyotrophic lateral sclerosis (Sla), the neurodegenerative disease that leads to progressive paralysis and that affects every year in Italy 1,500 people, mainly men of average or advanced age. The discovery, the result of years of studies conducted by international team in which the names of Emanuele Buratti Baralle Francisco and the International Centre for Genetic Engineering and Biotechnology (Icgeb) in Trieste, and guided by Christopher Shaw of King College London, appeared in Science.
Mutations in a single gene could be the basis of amyotrophic lateral sclerosis (Sla), the neurodegenerative disease that leads to progressive paralysis and that affects every year in Italy 1,500 people, mainly men of average or advanced age. The discovery, the result of years of studies conducted by international team in which the names of Emanuele Buratti Baralle Francisco and the International Centre for Genetic Engineering and Biotechnology (Icgeb) in Trieste, and guided by Christopher Shaw of King College London, appeared in Science.
The Sla is often fatal within five years after diagnosis (an exception is the case of Stephen Hawking, who is fighting it for more than 35 years) and there is no treatment. Shaw and colleagues studied the first time in a hereditary form of the disease, which affects 5 percent of patients. Screening of 154 people showed that 4 components of a single family shared the same mutation: a change in a single base (nucleotide) on Tdpb gene, which encodes the protein Tdp-43. From previous research we know that this protein accumulates in the cytoplasm of neurons engines, both in the familial form of the disease that is sporadic, affecting "coincidence" without inheritance, 95 per cent of the sick. In a later researchers have sequenced the same gene in 372 patients Tdpb the sporadic form, finding two other mutations.
According to scientists all these multiple mutations on the same gene (very rare case) have the same effect: alter the interaction of Tdp-43 with other proteins causes its accumulation in the brain cells. These mutations may be the cause of death of motor neurons. "The cure for neurological diseases is still far away," said Shaw: "We do not know what, but this is a step in the right direction". Upcoming studies are on animal models.
According to scientists all these multiple mutations on the same gene (very rare case) have the same effect: alter the interaction of Tdp-43 with other proteins causes its accumulation in the brain cells. These mutations may be the cause of death of motor neurons. "The cure for neurological diseases is still far away," said Shaw: "We do not know what, but this is a step in the right direction". Upcoming studies are on animal models.
« Unexpected prank | Home | Maria Sharapova hot video swimsuit photo shoot »
More Sciencey Facts!
Im really liking the physics stuff you find
Have you seen the electron duality videos, which changes if you count the number of electrons going through a slit.
Don't be shy, join the conversation: