RESEARCH FUND AND DONATIONS
APRIL 2007 - JOINT RESEARCH GRANT ANNOUNCED
BY AMERICAN RSDHOPE AND THE RSDSA
PRESS RELEASE – April 9 – 2007

American RSDHope and the RSDSA Award Grant for RSD Research to the Children’s Hospital of Los Angeles

Lynne Orsini, Executive Director of American RSDHope, and Jim Broatch, Executive Director of the RSDSA, jointly announced this week the award of a $50,000 Grant to Doctor Richard Boles of the Children’s Hospital of Los Angeles, California.

Doctor Boles' one-year Study will focus on maternally inherited mitochondrial DNA sequence variants and CRPS-1; Are CRPS-1 and other functional conditions genetically related through mitochondrial DNA?

Doctor Boles will examine up to 300 subjects over the course of the year and submit a final report to American RSDHope and to the RSDSA; a summary of which will be published on both websites.

This grant is the first time the two national RSD/CRPS Awareness Organizations have worked together on a research grant. Keith Orsini, one of the founders of American RSDHope and a long-time CRPS sufferer himself, said “We are all very excited here about working with the RSDSA on this project. Jim Broatch and I have long discussed our organizations working together on a project. When Jim shared Doctor Boles proposal with us, we knew this was the one.”

CRPS, Complex Regional Pain Syndrome, is known as the most painful form of Chronic Pain that exists today. There is no known cure and very little in the way of treatments. It is most often linked to a nerve injury of some type but can be caused by anything from a burn, sprain, or surgery, to a break or a fracture. CRPS most often strikes victims in their 30’s and 40’s but can occur at any age. There are between 1.5 and 3 million victims nationally.

Keith went on to say, “I am very interested to see if Doctor Boles will find a link here, a genetic predisposition on the maternal side. RSD, or as it is being called now, CRPS, claims women as its victims as often as 65% of the time.

Lynne Orsini, Executive Director of American RSDHope, is very excited about the research. “I realize we have a long way to go – but this could be a very important step in the right direction. I hope this will bring more awareness to the general public about what a devastating disease this is.”

According to Doctor Boles, “Our Hypothesis is that a brain/nerve energy deficiency plays an important role in the development of many functional disorders, including CRPS-I as well as migraine, depression, chronic fatigue, irritable bowel and others, at least in some people. This deficiency can be due to maternally inherited changes in the mtDNA code.”

STUDY DETAILS

If you are interested in participating in the study, or simply learning more about it, please click on the following link; DOCTOR BOLES STUDY INFORMATION


American RSDHope is a national non-profit organization dedicated to raising awareness of RSDS, or Reflex Sympathetic Dystrophy Syndrome, the nation’s most painful form of chronic pain. For more information about RSDS, also known as CRPS, Complex Regional Pain Syndrome, visit their website at AMERICAN RSDHOPE or you can write them at; American RSDHope, P.O. Box 875, Harrison, ME, 04040. 207-583-4589

The RSDSA is a national non-profit organization dedicated to raising awareness of RSDS/CRPS, visit their website at RSDSA or you can write them at; RSDSA, P.O. Box 502, Milford, CT 06460. Tel: 203.877.3790

Please share this information, as well as the Study Details, with your listservs, websites, and Support Groups. Let's help Doctor Boles get his 300 patients so that he can complete this study as quickly as possible.

http://www.rsdhope.org/Showpage.asp?...5&PGCT_ID=4162

Hi,

I hope not. Hugs, Roz

Inherited changes in mitochondrial DNA can cause problems with growth, development, and function of the body's systems. These mutations disrupt the mitochondria's ability to efficiently generate energy for the cell. Conditions caused by mutations in mitochondrial DNA often involve multiple organ systems. The effects of these conditions are most pronounced in organs and tissues that require a lot of energy (such as the heart, brain, and muscles). Although the health consequences of inherited mitochondrial DNA mutations vary widely, some frequently observed features include muscle weakness and wasting, problems with movement, diabetes, kidney failure, heart disease, loss of intellectual functions (dementia), hearing loss, and abnormalities involving the eyes and vision.

http://ghr.nlm.nih.gov/chromosome=MT...911C3BB5575EE7

The CVS1 study strongly suggested that maternally-inherited mtDNA changes (mutations or polymorphisms) are present in most individuals with CVS and neuromuscular disease (CVS+). Maternal relatives (mother, siblings, maternal aunts/uncles and the maternal grandmother) that share the same mtDNA type are often affected with various disease manifestations, but surprisingly, rarely with CVS. The disease manifestations that these relatives appear to be most predisposed to include migraine headache, depression, irritable bowel, hypothyroidism, hypoglycemia, heart arrhythmias, neurovascular dystrophy (intermittent pain and/or swelling, often in the extremities), and chronic fatigue. Most, but not all, of these diseases involve abnormal function of the autonomic nervous system (dysautonomia); this includes CVS. Siblings also appear to have an increased risk for learning disabilities and attention deficit hyperactivity disorder. It is important to note CVS patients and their maternal relatives neither have, nor do we expect that they will get, all or most of the diseases on this list. Rather, the mtDNA code in some way predisposes (increases the chances) that they may someday get one or more of these diseases. The clinical [Boles et al., 2003] and DNA [Wang et al., 2004] findings from the CVS1 study are published.

http://www.cvsaonline.org/announceupdateCVS3.htm

Abstract
Annual Review of Biochemistry
Vol. 76 (Volume publication date July 2007)
(doi:10.1146/annurev.biochem.76.081205.150955)


Why Do We Have a Maternally Inherited Mitochondrial DNA? Insights from Evolutionary Medicine

Douglas C. Wallace*
Center for Molecular and Mitochondrial Medicine and Genetics, University of California, Irvine, CA 92697-3940 dwallace@uci.edu





Life is the interplay between structure and energy-immortalized through heritable, mutable information. Structure is the purview of the nuclear cytosol and is encoded by Mendelian genes while energy is the purview of the mitochondrion and controlled by the mitochondrial DNAs (mtDNAs). Mitochondria generate energy via oxidative phosphorylation (OXPHOS), oxidizing calories to generate the mitochondrial inner membrane proton gradient (ΔP). ΔP is then used to generate ATP, the amount determined by the coupling efficiency. The mtDNAs of all organisms retain essentially the same set of "core" OXPHOS genes, all of which are involved in the generation or utilization of ΔP. Since ΔP is the common currency of OXPHOS, the functions of the core proteins must be co-optimized. This is accomplished by retention of the "core" genes on the maternally inherited mtDNA such that each new mutation is tested by selection in the context of the other linked protein variants.

Expected online publication date for the Annual Review of Biochemistry Volume 76 is June 2, 2007. Please see http://www.annualreviews.org/catalog/pub_dates.asp for revised estimates.

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You are a wealth of knowledge. Wow.

All I know is that my uncle had it (my dads brother - paternal side) after carpal tunnel surgery.

My mom has all kinds of other problems. Lived through cancer 3x's, her lungs fill with fluid, car accident caused broken back, she might actually have RSD now (in my opinion - the docs haven't said it) she complains of extreme pains in her back to this day.

Hi Christine,

We discussed genetics a couple of weeks ago, your link came up there too, you might like to take a look:
http://neurotalk.psychcentral.com/sh...ad.php?t=18864

Thanks for the links, Roz, this is a fascinating subject.

all the best

Hi Everyone,

This article is easy to understand on maternal mitochondrial DNA.
http://ghr.nlm.nih.gov/chromosome=MT...911C3BB5575EE7

Hi Again,

Sorry for all the separate posts but I can't type very long. You all know how bad my spelling has become anyway. These articles explain the maternally inherited mitochondrial DNA sequence relating to vision problems that some of us have. Love, Roz xxx

Retinitis pigmentosa
http://www.nlm.nih.gov/medlineplus/e...cle/001029.htm

Leber hereditary optic neuropathy
http://ghr.nlm.nih.gov/condition=leb...pticneuropathy