Category Archives: Research News (General)

Genetic risk for Parkinson’s disease (PD) may be due as much to multiple genes with small individual effects as to single high-risk genes, research suggests.

Nigel Williams (Cardiff University School of Medicine, UK) and colleagues used data from five PD genome-wide association studies, involving 5333 PD cases and 12,298 controls. The team tested 259,577 single nucleotide polymorphism (SNPs) in a subset of 1705 PD cases and 6200 controls from the UK, identifying between nine and 30,157 SNPs that were significantly enriched among the PD patients, depending on the significance threshold of association used.

Applying a polygenic score based on these SNPs to two subsets of patients from the USA and one from Germany revealed significant enrichment of the SNPs identified in the UK patients in these independent cohorts.

Patients lacking single high-risk genetic mutations who nevertheless develop the condition at a young age would be expected to have an increased polygenic risk, say the researchers. “Our study has identified compelling evidence that supports this hypothesis”, they write in the Annals of Neurology.

The authors caution that “the derived polygenic scores have little value for predicting an individual’s risk of developing PD”, but add that “measures of polygenic burden could prove useful in distinguishing PD patients whose disease liability is most likely to carry the largest or smallest genetic component.”

This would therefore facilitate efforts to identify environmental risk factors and gene–environment interactions.

Source;  NewsMedical.net

Researchers have the first conclusive proof that changes to lifestyle among the over-60s can slow mental decline – raising the prospects of dementia prevention programmes that cut your risk of the disease.

Findings from a two-year study of more than 1,200 60 to 77-year-olds in Finland, published in The Lancet medical journal, reveal that a group who received thorough advice about diet, regular exercise sessions, brain training and health check-ups performed better in cognitive tests than a group who received only the standard medical advice.

The results are significant, as it is believed to be the first randomised and controlled trial to conclusively demonstrate that keeping the body healthy in later life also benefits the brain. The participants will now be followed up over seven years to see if those who received the intensive healthcare intervention are less likely to develop dementia.

Overall scores in mental tests after two years were 25 per cent better in the group who received the intensive health programme. In particular areas they were even more striking. Scores for executive functioning – the brain’s ability to organise thought processes – were 83 per cent higher in the intervention group, while mental processing speeds were 150 per cent higher. All participants in the trial were judged to have a high risk of dementia at the start.

The study’s lead investigator is Miia Kivipelto of the Karolinska Instituet, Sweden, who is also the coordinator of the JPND-supported MIND-AD project which is developing multinational strategies for multi-modal preventive trials for Alzheimer’s Disease.

Source:  The Independent

Apple recently announced ResearchKit, a new software framework that turns the iPhone into a powerful tool for medical research.

In conjunction with the announcement of ResearchKit, The Michael J. Fox Foundation is announcing the launch of Fox Insight, a Web-based virtual clinical study open to individuals of any age, both with and without Parkinson’s, worldwide.

The Foundation also collaborated with biotech Sage Bionetworks on the development of a new Parkinson’s mobile app called Parkinson mPower that captures data on Parkinson’s symptoms and progression as part of a clinical study. Parkinson mPower is available for download in the iTunes App Store, and the mPower study is open to all U.S. residents over age 18, with or without a diagnosis of Parkinson’s disease.

Later this year, data collected from participants who enroll in both mPower and Fox Insight will be used to validate the power of these two approaches in accelerating Parkinson’s disease research.

Watch a video by Apple to learn more about how ResearchKit and studies like mPower can help speed scientific progress toward cures by amplifying the patient voice in shaping research.

Read the press release to learn more about mPower and Fox Insight and future plans for both technologies.

Source:  Michael J Fox Foundation for Parkinson’s Research

The Joint Programming Initiative “A Healthy Diet for A Healthy Life” is launching a new joint transnational call for research proposals on “Nutrition and Cognitive Function”.

The call aims to support small transnational research consortia with innovative and interdisciplinary approaches tackling the interrelationships between nutrition and cognition.

The call is scheduled to be launched on March-30, 2015 with the deadline for proposal submission scheduled for June 8th, 2015.

The pre-call announcement is available here and through the link below:

 

A study published in the journal Human Mutation revealed new genetic mutations in a domain of a dynein gene. The study, entitled “Novel mutations in the DYNC1H1 tail domain refine the genetic and clinical spectrum of dyneinopathies,” unlocks new insights into motor neuron diseases such as Spinal Muscular Atrophy.

Dynein is a microtubule motor protein that uses the energy contained in ATP (adenosine triphosphate) molecules to move. Dyneins can be either axonemal, facilitating the movement of cilia and flagella, or cytoplasmic, transporting several intracellular cargos along microtubule tracks. The movement of cytoplasmic dyneins is usually directed towards the center of the cell.

Several studies show evidence that genetic mutations in dyneins underlie some neurodegenerative disorders such as Alzheimer’s disease, Huntington’s disease, Parkinson’s disease, and motor neuron diseases.

Source:  SMA News Today

The Accelerating Medicines Partnership (AMP) is a new venture between the US National Institutes for Health (NIH), 10 bio-pharmaceutical companies and several non-profit organizations to transform the current model for developing new diagnostics and treatments by jointly identifying and validating promising biological targets of disease. The ultimate goal is to increase the number of new diagnostics and therapies for patients and reduce the time and cost of developing them.

AMP will begin with three to five year pilot projects in three disease areas: Alzheimer’s Disease, type 2 diabetes and autoimmune disorders of rheumatoid arthritis and systemic lupus erythematosus (lupus).

Focus on Alzheimer’s Disease:

For the project on biomarkers, the tau imaging and EEG data will be released in year two, as baseline data become available. Final data from the randomized, blinded trials will be added after the end of the five year studies, and will include both the imaging data and data from blood and spinal fluid biomarker studies. For the network analysis project, each individual project will generate several network models of late onset AD (LOAD) and will identify key drivers of disease pathogenesis by the end of year three. Years four and five will be largely dedicated to validating the novel targets and refining the network models of LOAD, including screening novel compounds or drugs already in use for other conditions that possess the ability to modulate the likely targets.

The budget for Alzheimer’s Disease over 5 years is $129.5 Million (Total Project Funding)

Source:  NIH (USA)

 

Creatine monohydrate doesn’t appear to slow the progression of Parkinson’s disease, according to research published in the February 10 issue of the Journal of the American Medical Association (JAMA).

The new study included 1,741 people in the United States and Canada who had been diagnosed with Parkinson’s disease within the previous five years. All were receiving treatment for Parkinson’s disease. As part of the study, they were randomly assigned to take creatine monohydrate or a placebo in addition to their usual treatment.

The patients were enrolled from March 2007 to May 2010 and followed up until September 2013. The study was halted early because those taking creatine showed no differences in disease progression compared to those taking the placebo.

“These findings do not support the use of creatine monohydrate in patients with Parkinson’s disease,” study author Karl Kieburtz, MD, MPH, of the University of Rochester in New York, and colleagues write.

Source:  eMPR

SuperAgers have distinctly different looking brains than those of normal older people, and the same memory capacity as a younger person. Understanding their unique brains could lead to new treatments for dementia, researchers say.

Published Jan. 28 in the Journal of Neuroscience, a new study is the first to quantify brain differences of SuperAgers and normal older people.

Cognitive SuperAgers’ unusual brain signature has three common components when compared with normal persons of similar ages: a thicker region of the cortex; significantly fewer tangles (a primary marker of Alzheimer’s disease) and a whopping supply of a specific neuron –von Economo — linked to higher social intelligence.

‘The brains of the SuperAgers are either wired differently or have structural differences when compared to normal individuals of the same age,’ said Changiz Geula, study senior author and a research professor at the Cognitive Neurology and Alzheimer’s Disease Center. ‘It may be one factor, such as expression of a specific gene, or a combination of factors that offers protection.’

Source: Northwestern university

Three leading research funders from the UK and North America have joined forces to launch a new global initiative called MEND or, MEchanisms of cellular death in NeuroDegeneration, with a fund of $1.25 million USD for targeted research into brain diseases that cause dementia, such as Alzheimer’s.

Alzheimer’s Research UK, the Alzheimer’s Association based in the U.S. and the Weston Brain Institute in Canada, whose participation in MEND is funded by Selfridges, announce the collaboration in response to the G7 health leaders’ commitment to collectively and significantly increase funding for dementia research, as announced at their December 2013 summit. G7 health leaders met in Bethesda, Maryland (U.S.A), last week to review progress on their goal to identify a cure or disease-modifying treatment by 2025.

MEND is open to applications from scientists around the globe, and researchers will be encouraged to collaborate on projects, sharing knowledge and resources in order to speed up progress. It’s hoped the scheme will also help answer fundamental questions about the similarities and differences between different diseases, such as whether the underlying mechanisms that cause cell death differ from one disease to another, and why each disease affects different types.

Source:  Medical News.net

According to a recent study from a team of researchers at Tel Aviv University, a mutation in a specific neuroprotective protein called ADNP has different expressions between males and females. This research adds new insights to what is currently known about the etiology of autism and Alzheimer’s disease. The results are published in the journal Translational Psychiatry.

Recent evidence suggests that ADNP has a neuroprotective effect in patients with autism spectrum disorder (ASD), and has also been found to be decreased in the serum of patients with Alzheimer’s disease (AD)

In the study entitled “Activity-dependent neuroprotective protein (ADNP) exhibits striking sexual dichotomy impacting on autistic and Alzheimer’s pathologies”, the research team found that the ADNP exhibits different activities in males and females, which implies that there are gender differences in the risk of developing certain diseases. While it has already been established that autism affects more males, and that Alzheimer’s disease tends to affect more females, these specific gender disparities remain minimally understood.

In a recent news release, Tel Aviv University’s Prof. Illana Gozes said, “If we understand how ADNP, an activity-related neuroprotective protein which is a major regulatory gene, acts differently in males and females, we can try to optimize drugs for potential future therapeutics to treat both autism and Alzheimer’s disease.”

Prof. Gozes and colleagues investigated gender differences in behavioral responses in mice with ADNP-altered and normal mice, to different cognitive challenges and social situations. The researchers observed learning and memory differences between female and male mice, especially in the hippocampus. The results indicate differences in ADNP expressions, which can result in ADNP-controlled autism and in genes that elevate one’s risk for Alzheimer’s disease.

“ADNP may be new to the world of autism, but I have been studying it for 15 years,” said Prof. Gozes. “Its gender-dependent expression changes male and female chemical tendencies toward different neurological disorders. Male and female mice may look the same and their brains may look the same, but they are not. When the expression of ADNP is different, it may cause different behaviors and different cognitive abilities. This study emphasizes the need to analyze men and women separately in clinical trials to find cures for diseases because they may respond differently.”

Source:  Alzheimer’s News Today