Connection Between Epigenome, Selective Mutability, Evolution, and Human Disease
Li, Harris et al., PLoS Genetics
Researchers at the Baylor College of Medicine and elsewhere propose a "connection between the epigenome, selective mutability, evolution, and human disease" based on the findings of their study on associations of structural mutability with germline DNA methylation and with non-allelic homologous recombination mediated by low-copy repeats. "Combined evidence from four human sperm methylome maps, human genome evolution, structural polymorphisms in the human population, and previous genomic and disease studies consistently points to a strong association of germline hypomethylation and genomic instability," the Baylor-led team writes.
Seegene Shines Additional Light on Impending MTB Assay
This post has been updated to reflect the fact that the assay is PCR-based and will not debut in the US this year.
Taking another step towards fulfilling a promise it made exactly one year ago, Seegene has debuted its Anyplex plus MTB/NTM/DR-TB test for diagnosing Mycobacterium tuberculosis and has shed additional light on the assay.
The real-time test is designed to identify non-tuberculosis mycobacteria and "key resistance mutations" to anti-MTB drugs, which could help physicians choose the proper treatment against the bacterium.
According to the Seoul, Korea-based test maker, the assay will not be available in the US until it wins regulatory clearance. The firm didn't say when this would happen. It already sells the test in the EU.
Last year's post was short on details of the test, but Seegene provided some additional information about it at this year's AACC conference, held this week in Atlanta.
Based on the firm's DPO and READ technologies, the assay is meant to take fewer than two hours to detect and discriminate MTB from NTM. For MTB-positive samples, the test runs additional assays that check for resistance to isoniazid, rifampicin, all fluoroquinolone-based antibiotics, and the injectable drugs amikacin, kanamycin, and capreomycin.
This part of the test, whose run-time is fewer than 40 minutes, is meant to learn whether the MTB is multi-drug resistant or "extensively" drug-resistant, the company said.
If a sample turns out to be NTM-positive, the test goes on to its next step, which is meant to identify with which of the three most-associated strains the patient is infected. The strains are M. avium complex, M. kansasii, and M. abscessus. It wasn't immediately clear how long this run takes.
The assay is PCR-based, "but not in the traditional sense as most people understand it," according to a company spokesperson. Seegene said it believes existing PCR technology has "not been able to accurately discriminate all of these mutations." Rather, the firm has designed the test to amplify each drug-resistant mutation by its corresponding DPO primer pair and detect it using the firm's READ technology.
Seegene described the technology as "neither a probe-based method nor a melting temperature-analysis method."
When launched, the test could be a powerful revenue driver for the test maker: It can identify the strain and its resistance to commonly used drugs, plus, the "emergence and spread" of drug-resistant MTB has created "an urgent need" for a real-time, all-in-one test, the Seegene said.
Around 9.4 million people are newly infected with MTB each year, and 1.7 million people annually die from the disease, according to CDC.
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