The News

First success in Parkinson’s disease of a novel technique for genetic investigations

2011-08-01T12:54:41Z

Exome sequencing enables the discovery of a new gene involved in the disease

A novel technique that speeds up the examination of the genome (genetic make-up) of people has recently become available: before analyzing the sequence of nucleic acids of DNA (the letters of the genetic code) it identifies the Exome i.e. the part of DNA which is actually used to make proteins that become the building blocks of our body. This increases the probability of finding important mutations of genes (the functional units that code one or more proteins)

A group of international researchers, using exome sequencing to analyze the DNA of a few rare families with hereditary Parkinson’s disease (PD), have found a new gene, called VPS35, which is involved in PD. The mutation was sought in 4326 patients and 3309 control subjects without the disease: mutations of the gene were found in a few families with hereditary PD and in none of the healthy controls.

The VPS gene is dominant (it is sufficient to have one mutated copy of the gene to develop the disease), but its penetrance is incomplete (not all the people with this mutation develop the disease).

The gene is involved in old protein recycling i.e. in their transport in endosomes to the Golgi apparatus, which can be considered to be a storehouse of the cell. This discovery gives further credence to the theory that PD is due to a problem connected to old protein disposal

Novel risk factor for Parkinson’s disease has been found

2011-08-01T12:49:53Z

Bacterium Helicobacter Pylori is prime suspect

Researchers of Louisiana University have presented data that suggest that Helicobacter pylori may have a role in the development of Parkinson’s disease at the meeting of the American Society of Microbiology. This bacterium occurs in the stomach of about half of the general population and has proved to be responsible for gastric and duodenal ulcers.

Mechanisms discovered that are potentially connected to the development of PSP, a severe form of parkinsonism

2011-08-01T12:41:28Z

Thousands of patients submitted to DNA analysis and outcome published in Nature Genetics

Within the context of an international research project, researchers analyzed the genome (genetic make-up) of more than 2000 patients suffering from a severe and rare form of parkinsonism, called Progressive Supranuclear Palsy (PSP). The results were compared with those obtained in 7000 control subjects without the disease. The analysis was carried out in two phases, starting from an initial sample of 1114 subjects who had died, in whom the diagnosis was certain, based on the outcome of their autopsy.

From skin cells of patients with Parkinson’s disease, a possible cure

2011-08-01T10:36:11Z

The Grigioni Foundation cosponsor of a study that shows how skin fibroblasts can be transformed into dopaminergic neurons

Dr Vania Broccoli, Director of the Stem Cell and Neurogenesis Unit of San Raffaele Institute in Milan, Italy, together with his team of researchers, has developed a new method based on genetic engineering, which enables the transformation of skin cells (fibroblasts) into dopaminergic nervous cells (neurons) – the ones that patients with Parkinson’s disease lack. The method consists in the genetic reprogramming of the cell by inserting three genes (Mash1, Nurr1 e Lmx1a), which trigger the transformation into induced dopaminergic neurons (iDA).

World Parkinson Disease Association Relaunch - Buenos Aires, June 12 2010

2010-07-02T14:53:44Z

Report on the meeting held at Buenos Aires to relaunch the World Parkinson Disease Association, with the co-operation of the Grigioni Foundation for Parkinson's disease and all the associations in South America.

The participants to the meeting for the relaunch of the World Parkinson Disease Association held in Buenos Aires included the President of the Grigioni Foundation for Parkinson's disease in Italy and the Presidents of all the Associations of patients with Parkinson’s disease in South America.

read full report

Falls of patients with Parkinson’s disease related to lack of acetylcholine

2010-06-11T01:38:59Z

Reduction in cholinergic activity evident in PET images

Brain images of 44 patients with Parkinson’s disease, out of whom 17 had a history of repeated falls, and 15 health subjects were obtained by PET techniques using markers of dopaminerigc and cholinergic activity. Cholinergic activity was significantly lower in the cerebral cortex of patients vs subjects, especially in the patients with a history of repeated falls (patients who had fallen -12.3%, patients who had not -6.6%), whereas there were no differences between the patients who had fallen and those who had not in terms of dopaminergic activity. A 11.8% reduction in cholinergic activity in the thalamus was recorded only in the patients who had fallen.

Source: Bohnen N et al Neurology 2009; 17: 1670-1676

Drugs against high blood pressure protect against Parkinson's disease in Denmark

2010-06-11T01:36:08Z

Retrospective study on calcium antagonist therapy in more than 11,000 Danes

Danish researchers analyzed the data related to dihydropyridine calcium-antagonists (such as nifedipine, felodipine, nicardipine) in the Danish national healthcare database, comparing 1931 subjects with Parkinson’s disease to 9651 subjects of same age and gender without the disease. They established that the risk of developing Parkinson’s disease was 27% lower in subjects on treatment with dihydropyridine calcium-antagonists, independently of dosage or duration of treatment.

Source: Ritz B et al Ann Neurol online December 2009

Cimpulsions are related to the dose of anti-parkinson drugs

2010-06-11T01:33:32Z

Only exception: abnormal eating

1167 patients with Parkinson’s disease in South Corea were administered the Minnesota questionnaire to detect abnormal compulsions. 10% had abnormal compulsions, especially punding (tidying, cleaning and cataloging objects without any purpose) (4.2%), eating (3.4%), sexual behaviors (2.8%), shopping (2.5%) and gambling (1.3%). All these abnormal behaviors were related to the dose of dopamine agonist taken, except punding, which was related to the dose of levodopa, and eating, which was not related to the dose of any drug.

Source: Lee JY et al Parkinsonism Relat Disord online 15 December 2009

Less risk of cancer with Parkinson's disease

2010-06-11T01:31:38Z

The outcome of the analysis of health data related to 107,598 patients with Parkinson’s disease.

American researchers analyzed the data related to 107,598 patients with Parkinson’s disease, included in clinical trials to establish their risk of developing a malignancy. They found that such risk was 27% lower vs controls without the disease. The reduction in risk increased up to 31% when skin cancer was excluded and regarded both smoking related (-39%) and non smoking related cancers (-24%).

Source: Bajaj A et al Cancer causes control online 7 January 2010

Patients with Parkinson's disease are less likely to have cancer

2010-06-11T01:28:12Z

Swiss researchers say so

Researchers working at the University of Basel conducted a retrospective study on a large number of subjects using the research database of UK GPs (UK General Practice Research Database). They compared the diagnoses of cancer between the patients diagnosed with Parkinson’s disease between 1994 and 2005 and a similar sample of subjects who did not have the disease. The risk of cancer was 23% lower in patients with Parkinson’s disease. In particular, the risk of a malignant tumor related to smoking, such as lung or bladder carcinoma, was 53% lower and the risk of hematological malignancy was 68% lower. The only exception was melanoma.

Source: Becker C et al Parkinsonism Relat Disord online 27 november 2009