Researchers Identify Genes Linked to Long-Term Lyme Disease

Lyme disease is often either misdiagnosed or completely undiagnosed.  According to Inside Precision Medicine’s report, researchers at Mount Sinai’s Icahn School recently teamed with Johns Hopkins University to improve diagnostics for the disease. They found a gene expression signature that sets individuals with long-term Lyme disease (LTLD) apart from others with acute Lyme disease.

Senior author of the study, Professor Avi Ma’ayan at Mount Sinai, contributed to the article by saying that there is much more to be learned about the fundamental processes (molecular mechanisms) of LTLD.

About Lyme Disease:

If it is caught early, Lyme disease which is the result of tick bites can be successfully treated with antibiotics. However, approximately ten to twenty percent of lime disease cases become more severe causing neurological or heart disease as well as arthritis.

The number of infections appears to be increasing. Although the CDC has received reports of thirty thousand diagnosed cases in the United States this year, estimates vary widely and are currently as high as 476,000 cases.

About the Study

In an effort to analyze the molecular differences between acute cases versus chronic cases of infection, Professor Ma’ayan and his associates recruited one hundred and fifty-two people. The participants had been treated for chronic Lyme disease symptoms. Seventy-two participants had Lyme disease diagnosed as acute while forty-four participants (controls) were not infected.

This is the first time that transcriptomics was used. It is a blood test that measures RNA levels in patients who have LTLD. The research team identified the most relevant genes. The results were reported in Cell Reports Medicine showing that the gene expression profile of most people diagnosed with post-treatment Lyme disease (PTLD) differed from people who were healthy controls. Note, however, that several cases overlapped.

Thirty-five genes in Lyme disease and PTLD were also identified. These genes had different information encoded (expressed) than the healthy cells (controls). The team discovered that PTLD patients had a different inflammatory signature than acute Lyme disease patients.

Their findings led the team to suggest that whole blood should be analyzed rather than the mononuclear cells in peripheral blood, as isolation of the peripheral blood is costly and demands a specific laboratory technique.

Professor Ma’ayn commented further that using transcriptomics and other omics technologies in the measurement of RNA levels to test for complex diseases should be considered and valued. He acknowledged that a Lyme disease diagnostic test may not be optimum, but it represents a step toward improved diagnosis and management of the disease.


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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