Medical Device & Diagnostic Industry Magazine
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Originally Published MDDI September 2005

R&D Digest

Maria Fontanazza

A gene chip that examines mitochondrial changes could have applications in early cancer detection. A pilot study conducted at the National Institute of Standards and Technology (NIST; Gaithersburg, MD) confirmed that a method using mitochondrial DNA (mtDNA) might be a tool for spotting the disease. A discussion of this work, which also involved The Johns Hopkins University School of Medicine (Baltimore), was published in the May issue of Journal of Molecular Diagnostics.

Gene chips have potential applications in a variety of areas, including forensics, human identification, and analysis of aging. Another possibility is a diagnostic test that detects cancer with higher throughput and easier interpretation than other techniques. In principle, the test is applicable to diseases that are related to mutations in the mtDNA, says the NIST team.

MtDNA is responsible for cell respiration and energy conversion. Past research at Johns Hopkins looked at mtDNA changes in solid cancers, which could be an early sign of cancer spreading.

NIST's work is part of a nationwide research effort looking for biomarkers that aid in finding cancer early. The team developed a high-throughput method to analyze mtDNA, using a redesigned chip to sequence a set of lung cancer samples. The chip was able to detect mtDNA sequence changes. This supports findings that changes across genetic material of the mitochondria could indicate lung cancer and other diseases.

Affymetrix Inc. (Santa Clara, CA) manufactured the chip used in the research, but otherwise had no involvement in the studies.

According to John Jakupciak, PhD, of NIST's biotechnology division, any manufacturer could make its own style of mtDNA chip. What makes one chip different from another is the sequence design and its layout. “In terms of how microarrays are used, you could tile any piece of DNA on a grid and use it for detecting any DNA,” says Jakupciak. A company would also need to design software that could interpret the microarray.

The National Cancer Institute provided research funding. Johns Hopkins and NIST are part of the institute's Early Detection Research Network, a group of centers and labs that develop and test potential biomarkers and technologies.

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