Download CeGaT`s Exome Sequencing contributes to Nature Genetics

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CeGaT's Exome Sequencing contributes to Nature Genetics
publication
Tübingen, Germany, November 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,
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-GenerationSequencing Technology.
CeGaT is a diagnostic sequencing company and official service provider for life technologies located in
Tuebingen, Germany. CeGaT was founded in 2009 by Saskia Biskup, MD PhD. CeGaT is specialized in
Molecular Diagnostics, Next-Generation-Sequencing, combining technical, bioinformatical and medical
know-how.
Contact
CeGaT GmbH
Paul-Ehrlich-Str. 17
72076 Tübingen
Phone: +49 7071 565 44 00
Fax: +49 7071 565 44 22
E-Mail: [email protected]
Web: http://www.cegat.de/
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