Scientists Create One-Step Gene Test for Mitochondrial Diseases
--CHOP Researchers' New Single-Platform Tool Streamlines
Diagnoses of Complicated Multisystem Disorders-- Philadelphia,
Jan. 29, 2013 –More powerful gene-sequencing tools have
increasingly been uncovering disease secrets in DNA within the
cell nucleus. Now a research team is expanding those rapid next-
generation sequencing tests to analyze a separate source of
DNA—within the genes inside mitochondria, cellular power plants
that, when abnormal, contribute to complex, multisystem
diseases. The study team, headed by a specialist in
mitochondrial medicine at The Children’s Hospital of
Philadelphia (CHOP), adapted next-generation sequencing to
simultaneously analyze the whole exome (all the protein-coding
DNA) of nuclear genes and the mitochondrial genome. “A first
step in developing treatments for a disease is to understand its
precise cause,” said Marni J. Falk, M.D., the director and
attending physician in the Mitochondrial-Genetic Disease Clinic
a