PDF Studies
 

Two New Genetic Mutations Linked to Parkinson’s
Using a new, cutting-edge gene sequencing technology, researchers funded in part by PDF, have discovered two new genes, VPS35 and EIF4G1, linked to familial Parkinson’s. The results were reported in the July 14 and September 9 issues of the American Journal of Human Genetics. Could understanding these genes also improve our understanding of Parkinson’s?

• New Genetic Mutation Linked to Parkinson's
• Genetic Mutation Linked to Inherited Parkinson’s Disease

Individuals with Parkinson’s Who Experience Resting Tremor Are Less Likely to Experience Dyskinesia
Are certain people with Parkinson’s more at risk for a common side effect of levodopa, called dyskinesia? A new study published in the August 2011 issue of Archives of Neurology says yes. Find out what your symptoms may say about your risk.

Structure of Alpha-Synuclein Protein Takes Surprising Twist
Alpha-synuclein is the hallmark of Parkinson’s, but even researchers were surprised by what they saw when they looked at its structure, says a study published in the August 14, 2011 issue of Nature. What can we learn from this surprising twist?
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Researcher: Manolo Carta, Ph.D.

Thanks for posting, Carolyn! This goes a long way to answer the questions I have about my own particular brand of PD; it echoes my experience - very interesting!

Individuals with Parkinson’s Who Experience Resting Tremor Are Less Likely to Experience Dyskinesia
Are certain people with Parkinson’s more at risk for a common side effect of levodopa, called dyskinesia? A new study published in the August 2011 issue of Archives of Neurology says yes. Find out what your symptoms may say about your risk.

Risk alleles
 

as per genetic findings; anyone know what the risk alleles are for these 2 mutations associated with PD? thanks

Risk alleles for EIF4G1 and VPS35 mutations
 

Madelyn,
I got the articles on these two genes from The American Journal of Human Genetics. The key genotype information for the two genes is below.

The SNP rs- and c- numbers are from the articles.

As I understand it, the letters before and after the > sign represent the normal and the risk allele, respectively. These are shown as assigned in the article.

For the SNPs present in the 23andme data base, the normal alleles from that source are shown in parentheses. The first SNP for the EIF4G gene was not listed in 23andme data. There are discrepincies between the normal alleles indicated by the two sources in three of the SNPs. I don't know why that is the case

EIF4G; five disease mutations,
SNP rs1879244, position c1505 C>Tn
SNP rs2178403, position c2056 G>T (A or G)
SNP rs2230571, position c3490 A>C (C or T) ?
SNP rs2293605, position c3589 C>T (C or T) ?
SNP rs4912537, position c3614 G>A (C or T) ?

VPS35; two disease mutations,
SNP rs56168099, position c1570 C>T
SNP rs74459547, position c1858 G>A

23andme data show two SNPs for this gene, neither of which matches the ones given in the relevant article.

I am somewhat concerned over the differences between the normal alleles from 23andme and those from the EIF4G1 article. I may give 23 and me a call or email them and ask about that.

Robert

genes
 

thank you, Robert. I will search through Richard's 23andme info now. Madelyn

next steps already underway...
 

In a related development the researchers had come to MJFF prior to the July publication of this finding with the intent to work in advance on a critical next step... we worked to start the development of the needed mouse models with an eye toward open and widespread distribution - ie, a speedy creation of tools that all researchers could quickly access. Read more about this novel way to have science move faster toward therapies.

http://www.pdonlineresearch.org/news...mutation-vps35

Best, Debi