Studies from UCSF Offer New Perspective on Fibromyalgia and Chronic Fatigue Syndrome


Researchers discovered surprising results after performing new studies of chronic fatigue syndrome (ME/CFS) and fibromyalgia (FM). According to a report by Cort Johnson in HealthRising, the new studies give the most comprehensive view of the genetics of mtDNA presented to date in connection with chronic pain.

Another study was submitted by Travis Craddock at the Neuroimmune Medicine Institute, reporting elevated mutations in mucosal genes found in the nose, eyes, and respiratory system in ME/CFS.

A third finding relating to ME/CFS occurred with the discovery of genes that were associated with errors in metabolism.

Putting the aforementioned findings together, a Canadian and US team of researchers came up with some meaningful results regarding FM.

In the past, researchers studying genetic pain were unable to ascertain a genetic association. But chronic pain had been studied by focusing on nuclear DNA within a cell’s nucleus rather than mitochrondrial DNA.

About Mitochondria

The DNA that the current group studied is mitochrondrial DNA, the other type of DNA that is inherited through the mother (mtDNA). Mitochondria have always been viewed as the primary source of energy production in the cells. However, their other functions such as their role in the nervous system and immune system should not be overlooked.

When searching for the cause of chronic pain, doctors usually find mitochondrial issues emerging from muscle and nerve tissues.

About the Study

The study involved 609 patients with persistent pain plus other conditions such as IBS, periodic migraines, and fibromyalgia (FM). A group of 237 healthy volunteers was included in the study as controls.

The study was unique in its effort to evaluate changes in genetic makeup (polymorphisms) within thirty-seven mitochondrial genes.

Approximately seventy percent of the participants were white and eighty-five percent of the participants were female. Twenty-three percent were African Americans.

About the Results

This was the first study to thoroughly analyze the relationship between mitochondrial DNA and chronic pain. The study disclosed a rarely studied genetic alteration, the single nucleotide polymorphism (SNP). The SNP is widely associated with fibromyalgia.

This finding was especially beneficial for women of color as a large majority carry the gene containing SNP. On the other hand, the gene is rarely found in white women.

An alteration in an SNP showed up frequently in women who have a form of a gene called the c (minor) allele. The researchers found it significant that this gene had never been analyzed in connection with pain or any other condition.

The evidence unearthed by the researchers found that a minor alteration in that gene elevated the risk of fibromyalgia and possibly other chronic pain disorders. Polymorphisms also raised the risk of having multiple pain conditions.

In a further discussion regarding the c (minor) allele, it is believed that the reason polymorphism has never been assessed is that the allele is rarely found in white women, and the majority of genetic assessments are conducted on them.

An Encouraging Confirmation

The researchers organized another study (OPPERA) with a new group of women. Fifty-two patients had FM and the second group of participants, consisting of one thousand people, did not.

The authors of the OPPERA study were pleased to learn that their previous findings were correct. That people who have FM had substantially elevated polymorphism.

Results to Date

The researchers have identified the first indication of genetic abnormality resulting in chronic, persistent pain. It appears that the risk of having FM increases substantially when a woman shows evidence of SNP within the c (minor) allele.

SNP has seldom been studied and therefore it has not been connected to other disorders.

Mitochondria and FM

It is still unclear how problems in the mitochondria create persistent pain. However, there have been studies that have broadly associated the mitochondria with FM.

A recent study using animal models indicates that suppression of mitochondria in the spinal cord and muscles may impact FM.

FM and Mitochondrial Abnormalities

The researchers identified two issues in FM that may contribute to an elevated level of minor nerve fiber problems. They point to reduced mitochondrial activity and increased oxidative stress. This was evidenced by skin biopsies.

Other issues to be considered are diminished levels of coenzyme Q10, a major factor in the mitochondria transport chain. When reduced Q10 levels are discovered, studies have shown that CoQ10 supplementation is beneficial.

In conclusion, the authors point out that mitochondria are now front and center in FM. And as a final note, the researchers state that new mitochondrial disorders will continue to be identified as research expands in this area.

What are your thoughts about this research that is still in its infancy? Share your stories, thoughts, and hopes with the Patient Worthy community!

Rose Duesterwald

Rose Duesterwald

Rose became acquainted with Patient Worthy after her husband was diagnosed with Acute Myeloid Leukemia (AML) six years ago. During this period of partial remission, Rose researched investigational drugs to be prepared in the event of a relapse. Her husband died February 12, 2021 with a rare and unexplained occurrence of liver cancer possibly unrelated to AML.

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