Tag Archives: genetics

The Lancet Neurology Conference: Preclinical neurodegenerative disease — towards prevention and early diagnosis is now accepting abstracts for poster presentation at its 2016 meeting, which will take place October 19-21, 2016, in London, UK.

Abstracts can be submitted on the following topics:

  • Genetic factors, cellular pathways, and neuronal vulnerability
  • Environmental factors, epidemiology, and primary prevention
  • Biomarkers and early diagnosis
  • Prevention through therapeutics
  • Trials; regulatory and ethical considerations

The deadline to submit is June 3, 2016. For more information, visit The Lancet Neurology Conference website.

A genetic study of over 173,000 individuals has confirmed that the TREM2 amino-acid-substitution mutation R47H increases the risk of Alzheimer disease in people of European descent.

Several studies have reported the TREM2 R47H mutation to be a risk factor for Alzheimer’s disease (AD), but the magnitude of this mutation’s role in AD and other neurodegenerative diseases has been far from clear.

“The effect size estimates varied widely across datasets,” says lead author of this study, Christina Lill University of Lübeck, Germany.

The results, published in the journal Alzheimer’s & Dementia, suggest the mutation contributes through tau dysfunction.

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

With several therapeutic approaches in development for Huntington’s disease, there is a need for easily accessible biomarkers to monitor disease progression and therapy response.

Researchers at Leiden University Medical Center in The Netherlands have discovered a panel of five genes whose expression in whole blood correlates with progression of Huntington’s disease.

In a study published in The European Journal of Human Genetics, the group reported that transcriptome analysis of 91 Huntington’s mutation carriers, about one third of whom were presymptomatic, and 33 controls yielded 167 differentially expressed genes. Twelve of the top 20 genes were validated using a different technique, and five of these proved significant in a smaller, independent cohort as well.

The authors suggest a first empiric formula predicting total motor score from the expression levels of our biomarker panel. Their data supports the view that peripheral blood is a useful source to identify biomarkers for Huntington’s disease and monitor disease progression in future clinical trials.

Just three months after a paper outed a gene for a mitochondrial protein as a potential cause of amyotrophic lateral sclerosis-frontotemporal dementia, four new publications have made the case clear. CHCHD10 is an ALS/FTD spectrum gene.

A handful of different mutations in the gene (whose acronym stands for the tongue twister coiled-coil-helix-coiled-coil-helix domain containing 10) cause a range of symptoms comprising ALS-FTD, ALS, and also mitochondrial myopathy, according to the studies.

A multi-disciplinary research team led by Prof. H.Y. Edwin Chan of the School of Life Sciences at The Chinese University of Hong Kong (CUHK) has identified a novel genetic mutation that leads to spinocerebellar ataxia (SCA). The work has been published in the September issue of Journal of Medical Genetics.

SCAs refer to a group of genetic diseases that cause progressive deterioration of the nervous system, particularly the cerebellum and are, at present, considered to be incurable. Sufferers gradually lose the fine motor functions of their bodies and have difficulty maintaining balance or coordinating daily movements.

The team consisting of biochemists, bioinformaticians, cell biologists, chemical pathologist, medical geneticists, neurologists and radiologist, embarked on a cross-disciplinary study with the aim of unveiling the underlying cause of a familial form of SCA identified in the local Hong Kong population. By means of next generation sequencing, the team first tracked down candidate disease-causing polymorphisms in the patients’ genomes. With a concerted experimental and bioinformatic effort, the researchers finally confined the SCA mutation to the coiled-coil domain containing 88C (CCDC88C) gene. This newly discovered form of SCA has been recognized as ‘SCA40’ by the Human Genome Organization Gene Nomenclature Committee

September 25 is ‘International Ataxia Awareness Day’, a worldwide campaign first organized 15 years ago with the aim of raising awareness of the illness around the globe.