Diagnosis Clinical Trial
Official title:
Identification of Large-Scale Mutations of POLG Gene by QMPSF in Patients With Mitochondrial DNA Instability.
Mitochondrial diseases are a heterogeneous group caused by genetic defects in mitochondrial
DNA or in nuclear genes. POLG is the most frequently involved gene in mtDNA instability
diseases resulting in mtDNA multiple deletion and/or depletion. It encodes the DNA
polymerase gamma (POLĪ³), the only known DNA polymerase found in mammalian mitochondria.
Mutations in POLG could explain 45% of familial progressive external ophtalmoplegia
associated with multiple mtDNA deletions. However, in more than 70%, the analysis of the
genes involved in mtDNA instability remains unsuccessful.
To date, these genes are screened by sequencing methods that are not able to detect
large-scale rearrangements. In order to detect possible large-scale rearrangements, the
investigators propose to develop a new assay based on QMPSF (Quantitative Multiplex PCR of
Short fluorescent Fragments) able to detect exon deletions and duplications. the
investigators propose to screen the POLG gene by QMPSF in at least twenty patients with
either no mutation or only one mutation detected in POLG and no mutation in other genes such
as TWINKLE and ANT1.
This study would allow the investigators to know if large-scale rearrangements occur in the
POLG gene and to estimate their frequency in patients with mtDNA instability. These data are
important to know if the sequencing analysis of POLG should be completed by the screening
for partial deletions and duplications to ensure an accurate molecular diagnosis of these
syndromes. Moreover, this method could be extended to ANT1 and TWINKLE genes.
n/a
Observational Model: Case-Only, Time Perspective: Cross-Sectional
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