Exome Sequencing and Nature Genetics

The group of Dr. Holger Prokisch, Institute of Human Genetics, Helmholtz Zentrum, Munich, Germany, was able to identify a new gene (ACAD9) as cause of complex I deficiency, a severe mitochondrial disorder. The gene was identified through Exome Sequencing performed at CeGaT GmbH.
Most interestingly, this study demonstrates how Exome Sequencing can contribute to finding the underlying gene and by this laying out the basis for functional experiments that can lead to new treatment options in so far undiagnosed cases.

PRESS RELEASE
CeGaT’s Exome Sequencing contributes to Nature Genetics Publication

Tübingen, Germany, Nov 14, 2010: CeGaT, Center for Genomics and Transcriptomics, today announced that its Exome Sequencing contributed to a publication in Nature Genetics*.

The group of Dr. Holger Prokisch, Institute of Human Genetics, Helmholtz Zentrum, Munich, Germany, was able to identify a new gene (ACAD9) as cause of complex I deficiency, a severe mitochondrial disorder. The gene was identified through Exome Sequencing** performed at CeGaT GmbH. Dr. Prokisch and his team filtered the data prioritising mitochondrial proteins and thus identified mutations in ACAD9, a protein that was until then only known to be involved in fatty acid metabolism.

In addition, Dr. Prokisch and his team provided functional evidence for ACAD9 being the responsible gene causing complex I deficiency. Furthermore, they used Riboflavin, the vitamin precursor of the flavin adenine nucleotide (FAD), a co-factor of ACAD proteins, to significantly increase complex I activity.

Most interestingly, this study demonstrates how Exome Sequencing can contribute to finding the underlying gene and by this laying out the basis for functional experiments that can lead to new treatment options in so far undiagnosed cases.

* Haack et al. (2010). Exome Sequencing identifies ACAD9 mutations as a cause of Complex I Deficiency. Nature Genetics (in print), http://www.nature.com/ng/journal/vaop/ncurrent/full/ng.706.html
** By Exome Sequencing all coding regions of the human genome are sequenced simultaneously using Next-Generation-Sequencing Technology.