Category Archives: Science

Health, Medical, Research, Science

New biological marker could detect Alzheimer’s disease ten years before symptoms appear…

EARLY TEST FOR DETECTING ALZHEIMER’S

Scientists are hoping that a new test could detect Alzheimer’s disease at least a decade before symptoms appear. That would pave the way for early treatment.

Researchers have discovered that a fall in levels of a certain type of genetic material could signal an increased risk and propensity of developing Alzheimer’s.

The biological markers are found within the cerebral spinal fluid (CSF) some 10 years before signs of dementia become apparent.

There are approximately 800,000 people with dementia in the UK, and current trends suggest that one in three people over 65 will die from the degenerative disease.

Presently, the only accurate method to diagnose the disease is by post-mortem neuropathological analysis, although other functional tests (such as memory and brain tests) can be used to determine whether drugs or other forms of treatment may help.

Researchers at Spain’s CSIC Institute of Biomedical Research of Barcelona believe they may have found a biological marker that could suggest the disease process is underway before symptoms start to appear.

Scientists found a drop in the content of mitochondrial DNA (mtDNA) –genetic material present in the energy centre of cells – in spinal fluid may be a sign for the disease.

They suggest that diminishing mtDNA levels reflect the reduced ability of mitochondria to power brain cells, thus triggering their death.

The drop in the concentration of mtDNA precedes the appearance of other recognised biochemical Alzheimer’s biomarkers, suggesting the process of Alzheimer’s disease starts earlier than previously thought and that mtDNA depletion may be one of the earliest predictors.

Researchers have previously been unable to detect the genetic material in spinal fluid, but they used a new technique to amplify tiny amounts. The research study was first reported in the journal Annals of Neurology.

The researchers at CSIC now hope other labs and hospitals will be able to replicate the results.

They say by finding a way to block the degeneration, clinicians may be able to diagnose and treat the disease before symptoms even appear.

Lead author Dr Ramon Trullas, said:

… If our initial findings can be replicated by other laboratories, the results will change the way we currently think about the causes of Alzheimer’s.

… The discovery of a fall in levels of a certain type of genetic material could signal an increased risk of developing Alzheimer’s.

… This discovery may enable us to search for more effective treatments that can be administered during the pre-clinical stage.

Dr Marie Janson of Alzheimer’s Research UK, the UK’s leading dementia research charity, said:

… Problems with mitochondria have already been linked to Alzheimer’s, which is why Alzheimer’s Research UK is currently funding research to further examine this link.

… This small study suggests that decreased mitochondrial DNA in cerebrospinal fluid may indicate the earliest stages of Alzheimer’s, but more work is needed to confirm this in larger groups of people.

… It would be useful to see further studies investigate changes in mitochondrial DNA over time, to determine how long before symptoms such changes might be detected.

… We know Alzheimer’s begins to develop before symptoms appear, and the ability to detect the disease at this stage is crucial for recruiting the right people for clinical trials of potential new treatments.

 

The discovery of a fall in levels of a certain type of genetic material could signal an increased risk of developing Alzheimer's disease. Image shows a CT scan of the brain of someone with Alzheimer's.

The discovery of a fall in levels of a certain type of genetic material could signal an increased risk of developing Alzheimer’s disease. Image shows a CT scan of the brain of someone with Alzheimer’s.

Standard
Britain, Health, Medical, Research, Science

New treatment options emerge for Parkinson’s disease…

RESEARCH LINKS THE DISEASE WITH A GENETIC DEFECT

… Scientists believe they are closer to treating debilitating Parkinson’s disease.

Parkinson’s disease is caused by a genetic defect that produces poor ‘housekeeping cells’, but scientists now believe they are closer to treating the debilitating condition.

Scientists have linked the disease to a genetic malfunction that prevents cells from clearing out defective mitochondria, metabolic generators within the body’s cells that supply energy. Dysfunctional mitochondria are potentially very harmful.

Normally, cells dispose of them through a ‘hazardous waste’ management system known as mitophagy. This causes bean-like bodies to be digested and broken down.

But researchers have now discovered and identified a biological pathway that allows mutations in a gene – called FBxo7 – to interfere with mitophagy.

For Parkinson’s sufferers, this leads to a build-up of defective mitochondria that may result in the death of brain cells.

The study, first published in the journal Nature Neuroscience, indicates that mitophagy might be the key to new treatment options for the disease.

Dr Helene Plun-Favreau is one of the researchers based at the Institute of Neurology at the University of London. She said:

… These findings suggest that treatment strategies that target mitophagy might be developed to benefit patients with Parkinson’s disease in the future.

… What makes the study so robust is the confirmation of defective mitophagy in a number of different Parkinson’s models, including cells of patients who carry a mutation in the Fbxo7 gene.

Co-author of the study, Dr Heike Laman, from Cambridge University, said:

… This research focuses the attention of the Parkinson’s disease community on the importance of the proper maintenance of mitochondria for the health of neurons.

… We are really only at the very beginning of this work, but perhaps we can use this information to enable earlier diagnosis for Parkinson’s disease patients or design therapies aimed at supporting mitochondrial health.

Professor Hugh Perry, chair of the neurosciences and mental health board at the Medical Research Council which part-funded the study, said the work raised ‘interesting questions’ about brain cell death related to Parkinson’s. He said:

… The more we understand about the basic molecular events which contribute to the onset and progression of Parkinson’s disease, the better placed we will be to develop treatments to stop it in its tracks.

Standard
Arts, History, Philosophy, Science, Society

Quantum Leaps: ‘Galileo Galilei’…

1564-1642

In both his life and through the imprisonment which he was forced to endure in the years leading up to his death, Galileo more than any other figure personified the optimism and struggle of the scientific revolution. He was responsible for a series of discoveries which would change our understanding of the world, while struggling against a society dominated by religious dogma, bent on suppressing his radical ideas.

Galileo Galilei, was an Italian physicist, mathematician, astronomer, and philosopher who played a major role in the Scientific Revolution.

Galileo Galilei, was an Italian physicist, mathematician, astronomer, and philosopher who played a major role in the Scientific Revolution.

…A Mathematician

Although he was initially encouraged to study medicine, Galileo’s passion was mathematics, and it was his belief in this subject which underpinned all of his work. One of his most significant contributions was not least his application of mathematics to the science of mechanics, forging the modern approach to experimental and mathematical physics. He would take a problem, break it down into a series of simple parts, experiment on those parts, and then analyse the results until he could describe them in a series of mathematical expressions.

One of the areas in which Galileo had most success with this method was in explaining the rules of motion. In particular, the Italian rejected many of the Aristotelian explanations of physics which had largely endured to his day. One example was Aristotle’s view that heavy objects fall towards earth faster than light ones. Through repeated experiments rolling different weighted balls down a slope (and, legend has it, dropping them from the top of the leaning tower of Pisa!), he found that they actually fell at the same rate. This led to his uniform theory of acceleration for falling bodies, which contended that in a vacuum all objects would accelerate at exactly the same rate towards earth, later proved to be true. Galileo also contradicted Aristotle in another area of motion  by contending that a thrown stone had two forces acting upon it at the same time; one which we now know as ‘momentum’ pushing it horizontally, and another pushing downwards upon it, which we now know as ‘gravity’. Galileo’s work in these areas would prove vital to Isaac Newton’s later discoveries.

…The Pendulum

Galileo’s earliest work involved the study of the pendulum, inspired by observing a lamp swinging in Pisa cathedral. Following further experiments, he concluded that a pendulum would take the same time to swing back and forth regardless of the amplitude of the swing. This would prove vital in the development of the pendulum clock, which Galileo designed and was constructed after his death by his son.

…Through The Telescope

One of the inventions Galileo is often mistakenly credited with today is the invention of the telescope. This is not true; there had been numerous early prototypes that had been mostly developed in Holland before him, and a Dutch optician called Hans Lippershey applied for a patent on his version in 1608. Galileo did, however, develop his own far superior astronomical telescope from just a description of Lippershey’s invention, and quickly employed it to make numerous discoveries. A strong advocate of the Copernican view of planetary motion, Galileo’s initial findings published in the Sidereal Messenger (1610) provided the first real physical evidence to back up this interpretation. As well as discovering craters and mountains in the moon, sunspots and the lunar phases of Venus for the first time, he also noted faint, distant stars which supported the Copernican view of a much larger universe than Ptolemy had ever considered. More importantly, he discovered Jupiter had four moons which rotated around it, directly contradicting the still commonly held view, including that of the Church, that all celestial bodies orbited earth, ‘the centre of the universe.’

…Galileo and Copernicus

Galileo’s Dialogue Concerning the Two Chief World Systems – Ptolemaic and Copernican, in which the Ptolemaic view was ridiculed, attracted the attention of the Catholic Inquisition when it was published in 1632. Threatened with torture, Galileo renounced the Copernican System. His work was placed on the banned ‘Index’ by the Church where it remained until 1835, and he was subject to house arrest for life. But the tide of scientific revolution Galileo had helped instigate proved too powerful to hold back.

After being forced to renounce his heliocentric view of the Earth, Galileo said:

… Nevertheless, it turns!

Standard