DNA + COMPLEX REGIONAL PAIN SYNDROME CONNECTION? – Mitochondrial DNA – What is it?

IS THERE A FAMILIAL LINK FOR CRPS? In other words, is there a higher likelihood of one sibling getting CRPS if another is diagnosed with it already?

Increased Risk of Complex Regional Pain Syndrome in Siblings of Patients?   This is one of the few studies done on this. If this tpic concerns or interests you you should read the report. Their bottom line though was it does not appear it is statistically a significant number.

The American RSDHope Organization and the RSDSA did a joint research project with the Los Angelas Children’s Hospital a few years back to determine if there was a mitochondrial DNA link regarding CRPS.

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In the combined research grant described above, Doctor Boles investigated mitochondrial DNA.

What is mitochondrial DNA?

In this section from the NIH website, they explain what exactly it is;

Mitochondria are structures within cells that convert the energy from food into a form that cells can use. Although most DNA is packaged in chromosomes within the nucleus, mitochondria also have a small amount of their own DNA. This genetic material is known as mitochondrial DNA or mtDNA. In humans, mitochondrial DNA spans about 16,500 DNA building blocks (base pairs), representing a small fraction of the total DNA in cells.

Mitochondrial DNA contains 37 genes, all of which are essential for normal mitochondrial function. Thirteen of these genes provide instructions for making enzymes involved in oxidative phosphorylation. Oxidative phosphorylation is a process that uses oxygen and simple sugars to create adenosine triphosphate (ATP), the cell’s main energy source. The remaining genes provide instructions for making molecules called transfer RNA (tRNA) and ribosomal RNA (rRNA), which are chemical cousins of DNA. These types of RNA help assemble protein building blocks (amino acids) into functioning proteins.

Mitochondrial genes are among the estimated 20,000 to 25,000 total genes in the human genome.

How are changes in mitochondrial DNA related to health conditions? Many genetic conditions are related to changes in particular mitochondrial genes. This list of disorders associated with mitochondrial genes provides links to additional information.

The following conditions are related to changes in the structure of mitochondrial DNA.

CANCERS 

Mitochondrial DNA is prone to somatic mutations, which are a type of noninherited mutation. Somatic mutations occur in the DNA of certain cells during a person’s lifetime and typically are not passed to future generations. There is limited evidence linking somatic mutations in mitochondrial DNA with certain cancers, including breast, colon, stomach, liver, and kidney tumors. These mutations might also be associated with cancer of blood-forming tissue (leukemia) and cancer of immune system cells (lymphoma).

It is possible that somatic mutations in mitochondrial DNA increase the production of potentially harmful molecules called reactive oxygen species. Mitochondrial DNA is particularly vulnerable to the effects of these molecules and has a limited ability to repair itself. As a result, reactive oxygen species easily damage mitochondrial DNA, causing a buildup of additional somatic mutations. Researchers are investigating how these mutations could be related to uncontrolled cell division and the growth of cancerous tumors.

SECOND STUDY CONCERNING MITOCHONDRIAL DNA AND CRPS TYPE 1

Furthermore, in a second study, this one also done at Children’s Hospital in Los Angelas by Drs Higashimoto, Boles, Baldwin, and Gold.  Reflex sympathetic dystrophy: complex regional pain syndrome type I in children with mitochondrial disease and maternal inheritance.
I found the following conclusion was drawn;

CONCLUSION:

In one tertiary-care paediatric genetics practice, children meeting the CRPS-I diagnostic criteria frequently had additional autonomic-related conditions secondary to maternally inherited mitochondrial disease, suggesting that mitochondrial DNA sequence variants can predispose children towards the development of CRPS-I and other dysautonomias. CRPS-I should be considered in patients with mitochondrial disease who complain of idiopathic pain. Maternally inherited mitochondrial disease may not be a rare cause of CRPS-I, especially in children who present with other manifestations of dysautonomia.

Click on the link above for the study to read more about it or if you would like to research more studies about Mitochondrial DNA, CVS, and possible links to CRPS and other neurological disease and other factors CLICK HERE. You never know what you can find when you start poking around in these NIH websites, especially the ones filled with study results!

IS THERE AN INCREASED RISK OF COMPLEX REGIONAL PAIN SYNDROME IN SIBLINGS OF PATIENTS WITH CRPS? 

The Journal Of Pain – December 2009 

Volume 10, Issue 12, Pages 1250–1255, December 2009

Annetje M. de Rooij
Marissa de Mos
Jacobus J. van Hilten
Miriam C.J.M. Sturkenboom
M. Florencia Gosso
Arn M.J.M. van den Maagdenberg
Johan Marinus

Received: January 28, 2009; Received in revised form: April 16, 2009; Accepted: May 28, 2009; Published Online: October 23, 2009

DOI: http://dx.doi.org/10.1016/j.jpain.2009.05.006

Abstract An increased risk among siblings of probands with complex regional pain syndrome (CRPS) may be indicative of a genetic contribution. We calculated the sibling recurrence risk ratio (λsibling), a measure of familial aggregation. We surveyed 405 CRPS patients to collect information on the occurrence of CRPS in their siblings and compared this risk with the population risk to develop the syndrome. Information on disease status was collected from 1242 siblings, of which 24 were possibly affected according to their siblings. The diagnosis was confirmed in 16 patients, rejected in 2, and could not be verified in the remaining 6. Age-specific risk ratios were calculated for younger (<50 years) and older (≥50 years) age groups. The strongest effects were seen in the younger age group, with a λsibling for possibly affected and confirmed cases of 5.6 (95% CI, 3.0 to 9.8) and 3.4 (95% CI, 1.5 to 6.8), respectively. We concluded that this study yielded no indications for an overall increased risk of developing CRPS for siblings of CRPS patients but that the risk was significantly increased in siblings younger than 50, which may indicate that genetic factors play a more pronounced role in this subgroup.

Perspective We studied the risk of developing CRPS for siblings of patients with this syndrome. Although the overall risk for siblings was not increased compared with the population risk, the risk for younger siblings was elevated. To enhance chances of success, future genetic studies may consider restricting inclusion to younger-onset cases.

Key words: Complex regional pain syndromesibling recurrence risk ratiogenetic predispositionheritability

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