- Kristina Fister, associate editor (kfister@bmj.com)
Length variability in α-synuclein gene predisposes to Parkinson's disease
The aetiology of Parkinson's disease is largely unknown, but genetic factors may be implicated. The most promising association of a gene with susceptibility for Parkinson's disease seems to be that of the α-synuclein gene, but previous studies gave conflicting results.
Credit: JAMA
A collaboration of 18 teams of researchers worldwide analysed published and unpublished individual data for more than 5000 people. They found that variability in the length of a dinucleotide repeat sequence (REP1) in the promoter of the α-synuclein gene was associated with susceptibility to Parkinson's disease: the 263 base pair allele conveyed an increased risk of developing the disease, whereas the 259 base pair allele seemed to be protective. However, the gene variants did not seem to modify the age of disease onset.
Credit: N ENGL J MED
The gene codes for the α-synuclein protein, which is abnormally aggregated in the neurones of people with Parkinson's disease, although only about 1% of people with the disease have a mutated α-synuclein gene. The α-synuclein protein is also the major compound of Lewy bodies, the pathohistological marker of Parkinson's disease. If overexpression of the α-synuclein gene was a common underlying pathophysiological mechanism in people with the disease, this would offer opportunities for new drugs targeted at reducing expression of the gene. As yet, however, there is no robust evidence for this. Large longitudinal studies are needed to assess whether the gene has a modifying effect on the course of the disease.
Adherence to antiretroviral treatment is high in Africa
Concerns raised over the ability of people infected with HIV in sub-Saharan Africa to adhere to antiretroviral treatment seem to contribute to delayed access to treatment. A recent meta-analysis showed that these concerns are unjustified.
A comprehensive search for available data on adherence rates found 31 studies (17 573 patients) from North America and 27 studies (12 116 patients) …
Sign in
Personal subscribers, sign in here:
Article access
Article access for 1 day
Purchase this article for £20 $30 €32*
The PDF version can be downloaded as your personal record
CiteULike
Connotea
Del.icio.us
Digg
Facebook
Reddit
Technorati
Twitter
Stumbleupon
Rapid responses
Latest Responses
The decline in the breast cancer incidence is 1.2% and it is not significant.
Published 10 February 2012
'twas ever thus
Published 10 February 2012
The value of historic human remains
Published 10 February 2012
In Praise of British Literature
Published 10 February 2012
Is real shared decision making possible?
Published 10 February 2012
Most responses
Does anyone understand the government’s plan for the NHS? (17 responses)
Published 17 Jan 2012
Bad medicine: medical nutrition (15 responses)
Published 18 Jan 2012
Shared decision making: really putting patients at the centre of healthcare (7 responses)
Published 27 Jan 2012
Why legislation is necessary for my health reforms (7 responses)
Published 1 Feb 2012
Search for evidence goes on (5 responses)
Published 17 Jan 2012