Focus

Is ATNX2  a regulatory gene in Italian amyotrophic lateral sclerosis patients with C9ORF72 expansion?

2015
Through a joint study carried out in cooperation with Italian scientists, among which ISN-CNR researchers, a total of 1972 ALS cases were identified. The study population included: 333 Italian ALS cases who carried the C9ORF72expansion, 1639 Italian ALS not carrying the C9ORF72 expansion and 1043 controls.  In this study the large series of Italian ALS patients with C9ORF72 GGGGCC hexanucleotide repeat expansion, compared to age-, gender- and ethnic-matched controls, did not reveal an ...

Deja-Vù? An error in the mainframe

2014
Dejà-vù is a fascinating and mysterious psychological phenomenon investigated by philosophers, psychologists, psychiatrists and neurologists. However, until now there is not a clear scientific theory able to explain this phenomenon. The Institute of Bioimaging and Molecular Physiology-CNR of Catanzaro, in collaboration with the Institute of Neurology of the Policlinico "Magna Graecia" Catanzaro, has shed new light on the neurobiological correlates underlying Dejà-vù. This research has been ...

Hypoxia: the Brain is less vigilant

2014
A mild decrease of oxygen supply to the brain can selectively impair the brain's arousal levels and behavioral responses, but not orienting of spatial attention and executive control functions. This is indicated by the findings of a study carried out by the Institute of Molecular Bioimaging and Physiology in collaboration with the University of Milan Bicocca. These findings were presented at the "2014 Society for Neuroscience" Annual Congress, the largest and most influential Neuroscience ...

Parkinson's disease: New therapies for motor complications has been discovered.

2014
The most efficacy drug therapy employed to treat Parkinson's disease is the levodopa but, for obscure reasons, after few years this induces motor complications called dyskinesias. The Institute of Bioimaging and Molecular Physiology-CNR of Catanzaro, in collaboration with the Institute of Neurology of the Policlinico "Magna Graecia" Catanzaro, has shed new light on the neurobiological correlates of this motor complication demonstrating the efficacy of neurostimulation. This research has been ...

A new gene involved in ALS, Matrin3

2014
The joint efforts of Italian researchers, among which ISN-CNR researchers and American researchers from National Institute of Aging (NIA), NIH, Bethesda allowed the identification of a new gene ALS-related, Matrin 3 on Chromosome 5. MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. The work is published on Nature Neuroscience. Mutations in the Matrin 3 gene cause familial amyotrophic ...

Transparent Publishing

2014
Bernd Pulverer, Chief Editor of the EMBO Journal, will give an overview on the peer reviewed research paper which remains the main conduit for the exchange of research discoveries. With the growth and diversification of global research, publishing in selected journals and citation metrics are increasingly employed as surrogates for quality in research assessment. Consequently, the pressures to publish in only a handful of journals have increased, with the risk of hampering scientific progress. ...

A Third of a Second to Understand Body language

2014
It takes just 300 ms to our brain to understand whether one person's facial mimic and body language are consistent with her inner feelings and mental states or with a verbal description of her feelings and mentations. And, when they are not, that person's verbal message has a short life in our brain. Indeed, our brain very quickly compares the inputs deriving from areas processing facial expressions, and face and body mimics (including the mirror neurons system) with the visceral feelings of ...

Protecting the genome: a novel protein helps prevent DNA damage caused by free radicals.

2013
Macromolecules (DNA, proteins, and lipids) in all cells are constantly damaged by reactive oxygen species (ROS). In particular, ROS cause 1,000-7,000 DNA damages per day. Due to its lowest redox potential, the base guanine is mostly affected, resulting in the formation of 8-oxo-7,8-dihydroguanine. This modified base instructs incorporation of adenosine, instead of cytidine, by replicative DNA polymerases, potentially leading to GC ->TA transversion mutations. DNA polymerase lambda is the most ...

Platelet count is not equal for everybody

2013
It is time to rethink platelet count reference intervals actually used to define "normal" a person basing on his sex and age. A study recently published in PLOS ONE (http://dx.plos.org/10.1371/journal.pone.0054289) analyzed about 41.000 subjects involving 3 CNR Institutes and other research facilities, and showed that women had steadily more platelets than men. The number of platelets decreases quickly in childhood, stabilizes in adulthood, and further decreases in oldness. Furthermore a ...

ERC ADVANCED GRANT per M.C. Morrone

2013
La professoressa Maria Concetta Morrone, docente di Fisiologia dell'Ateneo di Pisa ed associata all'Istituto di Neuroscienze del CNR, si è aggiudicata un finanziamento di 2,5 milioni di euro per il periodo 2014-2018 con una ricerca nel campo delle neuroscienze cognitive. "Early cortical sensory plasticity and adaptability in human adults" - questo il titolo del progetto finanziato - si propone di indagare la plasticità e la capacità di adattamento del cervello degli adulti, con studi ...

The life of neurons is not limited by genes

2013
The mammalian neurons can live as long as the body that has generated them. The limit of their existence would not, therefore, written in the genes. In practice, the brain can survive the body. This is demonstrated by an Italian experiment in which rat neurons were transplanted into the brain of a rat, where they set perfectly. The research was coordinated by the neurosurgeon Magrassi Lorenzo, who works at the University of Pavia, at the Fondazione Policlinico San Matteo and the lnstitute of ...

Athletes' Brain? It's a Referee

2012
Unlike laypersons' brain, professional basketball players brain's mirror neurons system (MNS) can automatically detect incorrect basketball playing actions in four tenths of a second. This was revealed by a study of the Bicocca University of Milan and the CNR-IBFM just published in Scientific Reports.Nature.

ATXN-1 in SLA

2012
ATXN-1 intermediate poly-CAG expansions with CAT interruptions are a risk factor for ALS. The study, conducted by Dr. Conforti, ISN-CNR, together with Prof. La Bella from the ALS Clinical Research Center of Palermo, has demonstrated that both ATXN-1 and ATXN-2 PolyQ intermediate expansions are independently associated to an increased risk for ALS. The PolyQ lengths of ATXN-1 and ATXN-2 in 405 sALS, 13 fALS and 296 unrelated controls without history of neurodegenerative disorders were assessed. ...

Sla and cancer: a protein in a possible connection

2012
A joint study between IFOM (FIRC Institute of Molecular Oncology) in Milan and the Institute ofg Molecular Genetics - National Research Council (IGM-CNR) of Pavia, with the support of AIRC and Telethon, published in Cell, confirms the key role of senataxina in regulating the process of transcription and replication of DNA. Its mutation affects two serious neurodegenerative diseases and may play a role in cancer formation. Reference: Chiara Lucca, Daniele Piccini, Walter Carotenuto, Marco ...

A marker for the diagnosis of Creutzfeldt-Jakob disease

2012
A study of the Institute of Neurological Sciences at the CNR reveals a protein called thymosin beta 4, as a specific marker for patients with CJD. The result allows to diagnose a rare but fatal disease, with very high efficiency, comparable to that currently only achieved by post-mortem examinations. Researchers at the Institute of Neurological Sciences of the National Research Council (Isn-Cnr) in Mangone (Cosenza), in collaboration with University Magna Graecia of Catanzaro, Regional Hospital ...

Novel pharmacological perspectives for the cure of Fragile X syndrome

2012
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability (ID) and a leading cause of autism, frequently associated with epilepsy and abnormal behavior. In most cases FXS is caused by the silencing of the FMR1 gene and ensuing lack of Fragile X Mental Retardation Protein (FMRP), an RNA binding protein involved in RNA metabolism and protein synthesis. A large number of mRNAs linked to FMRP have recently been identified and extensive research has contributed to clarify ...

HIPK2 CONTROLS CELL DIVISION

2012
Cytokinesis is the final step in cell division. Errors at this stage prevent the final separation of the newly formed cells and give rise to a single cell, defined as polyploid, harbouring an abnormal chromsome content. Polyploidy promotes in turn chromosomal instability, a hallmark of cancer. Here Rinaldo and collaborators show that HIPK2, a kinase involved in many cell fate decisions during development and in response to stress, controls cytokinesis and prevents the formation of polyploid ...

A possible role of DNA repair in the pathogenesis of Huntington's disease

2012
The Huntington's disease (Huntington's Disease, HD) is a hereditary nuerodegenerativa pathology, in which a particular sequence of three nucleotides (CAG), is "expanded", that is inserted in multiple copies at the beginning of the Huntingtin protein gene. When the number of these triplets exceeds a threshold value, the resulting protein in neurons assumes its pathological form, causing the degeneration of neurons. The mechanism by which the number of CAG triplets is expanded is not perfectly ...

Nicotine Swells the Working Memory Capacity

2012
Nicotine improves the capacity of the 'working memory', the store where information is temporarily stocked in order to re-use it during cognitive processing, through the activation of regions of the frontal and prefrontal cortices of the right hemisphere in the human brain. It also appears to impair brain processing underpinning motor response choice and execution. These are the outcomes of a study carried out by the CNR-IBFM and the Bicocca University of Milan suggesting that the ...

Identification of a hexanucleotide repeat expansion in C9ORF72 in Amyotrophic Lateral Sclerosis patients

2011
The advent of new technologies and the close collaboration among ISN-CNR researchers and other Italian and foreign scientists allowed to identify the modification of a gene, common to the high percentage of ascertained cases of ALS. The study was developed through two genetic analysis tools, genome-wide association studies (GWAS) of ALS cases and controls, and studies using the new generation sequencing technology in an attempt to identify the genetic lesion responsible for disease. The gene ...

When a photograph can be heard!

2011
Looking at images usually linked to a sound activates the superior temporal auditory cortex in a tenth of a second. The study carried out by the University of Milan-Bicocca and Ibfm-CNR reveals, besides other neurophysiological mechanisms, why seeing the labial fosters language comprehension and why the off-sync distorts it so heavily. The auditory cortex is activated by vision too. Looking at pictures linked to a sound, for instance a saxophonist with his bulging cheeks blowing into his ...

Identification of the genes involved in the formation of platelets

2011
A large research project identifies 68 regions of the genome that regulate the formation and structure of the blood cells, affecting in many diseases. Millions of genetic variants were analyzed in 70,000 individuals. The study, carried out in collaboration between 100 research institutions, of which nine Italian, was published in Nature. The joint efforts of researchers from four different continents, pertaining to one hundred research institutions, nine of which Italian, identify genetic ...

A tolerance pathway for oxidative DNA damage, common to humans and plants

2011
The study, published on the jorunal "Plant Cell", has been conducted by the DNA Enzymology team at the IGM-CNR, led by Dr. Giovanni Maga, together with the laboratory of Plant Molecular Biology of the University of Pavia, coordinated by Prof. Rino Cella. Oxidative stress, arising from either intracellular metabolism or exogenous sources (UV, radiations, pollution, smoking), can alter the chemical nature of DNA, inducing mutations. The group of Dr. Maga has previously published in the journal ...

A study of the Wiskott-Aldrich syndrome

2011
This work represents the most extensive data collection so far made regarding the hematopoietic stem cell transplantation in patients with Wiskott-Aldrich syndrome, a rare genetic disorder linked to the X chromosome that causes severe deficits on platelets as well as on of the immune system cells. The project has involved 12 of the most important American and European transplant centers, allowing the collection of data on transplantation and the subsequent follow-up of 194 patients ...

The cells recycle the byproducts of their metabolism to repair DNA

2011
Cellular DNA is constantly exposed to endogenous and exogenous damaging agents, such as free oxygen radicals, UV light and carcinogenic pollutants. The resulting chemical modifications of DNA bases, alter the genetic information contained in the cellular genome, causing mutations. Cells have evolved specialized enzymes, the so called translesion DNA polymerases, capable of retrieving the correct information from damaged DNA. Failure or misregulation of these mechanisms can lead to cancer. The ...

Potential therapeutical actions of Cannabinoids

2011
The therapeutic effects induced by cannabinoid drugs are well known since thousands of years. However, the recreational use of marijuana has indirectly limited a rigorous scientific evaluation of these pharmacological agents in the clinical practice. In our laboratories, we have screened and selected several cannabinoid ligands in order to evaluate the therapeutic benefits that might be attributable to these drugs. Our pre-clinical analyses confirmed that cannabinoid compounds may have ...

A new role for splicing factors in the DNA damage response.

2011
The cell response to endogenous DNA damage is still largely unexplored. The paper published on Nucleic Acids Research by Alessandra Montecucco laboratory demonstrates that splicing factor SRSF1 is hyper-phosphorylated in response to increased levels of replication-dependent DNA damage in DNA ligase I defective cells. This is accompanied by a change in alternative splicing events controlled by SRSF1 such as the production of Ron oncogene and caspase 9 alternative mRNAs. Both SRSF1 phosphorylation ...

Una mappa per la sindrome di Down (in News del 21/04/2011)

2011
Grazie all'impiego di una tecnologia e di un protocollo innovativi l'Istituto di genetica e biofisica "Adriano Buzzati Traverso" (Igb) del Consiglio nazionale delle ricerche (Cnr) ha ottenuto un profilo completo dei geni alterati nei pazienti con Sindrome di Down, scoprendo che è l'interazione dei geni presenti sul cromosoma 21 con altri geni a determinarne le alterazioni patologiche. Lo studio, pubblicato sulla rivista PLos ONE, è stato coordinato da Alfredo Ciccodicola e condotto da ...

Smoking habits and DNA polymorphisms

2011
A study conducted by IGM-CNR researchers and published in the European Journal of Human Genetics, has established the importance of a human single-nucleotide polymorphisms (SNPs) in the human genome in the smoking behavior in the Italian population. In 2008, some studies had identified a biallelic variant present in the gene cluster CHRNA5-A3-B4 as associated to the smoker's addiction to large amounts of nicotine consumption (> 10 cigarettes per day). The same nucleotide variant has been ...

High-resolution structure of a misfolded intermediate

2010
A study by Italian researchers of CNR-IBPM and Sapienza University of Rome published in the Nature Structural and Molecular Biology was able to depict the structural features of a misfolded intermediate. This study reports the first structure of a misfolded state and represents the first step towards our understanding of the misfolding cascade, the cause of several human pathologies. Incorrectly folded states transiently populated during the protein folding process are potentially prone to ...