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Case Reports in Surgery and Invasive Procedures | Volume 3
March 11-12, 2019 | London, UK
Biomarkers
Plastic and Cosmetic Surgery
International Conference on
International Conference on
Joint Event
&
Decreased circulating mitochondrial DNA copy number in patients with multiple sclerosis: A potential
blood-based biomarker
Ghada Al Kafaji, Hala Bakheit, Ahmad Alsayed Farahat
and
Moiz Bakhiet
Arabian Gulf University, Bahrain
M
ultiple sclerosis (MS) is a chronic immune-mediated
disease of the central nervous system, characterized by
neuroinflammation and neurodegeneration with demyelination
and neuroaxonal loss. At present, there is no cure for MS and
the validation of biomarkers can improve disease diagnosis and
clinical outcome. Growing evidence suggests that mitochondrial
dysfunction is associated with the pathogenicity of MS. In
addition,maintainingmitochondrial DNA (mtDNA) copynumber,
which is a surrogate measure of mitochondrial function, is
important for preserving mitochondrial activity.
In this study, we investigated changes in mtDNA copy number
in the peripheral blood of patients with relapsing-remitting MS
(RRMS) and healthy individuals to evaluate the feasibility of
mtDNA copy number as a biomarker for MS.
The mtDNA copy number was quantified as the DNA ratio
between a target mitochondrial gene and a reference nuclear
gene (mtDNA/nDNA) in blood samples from 46 RRMS patients
and 47 healthy controls using real-time polymerase chain
reaction (PCR).
Patients with RRMS showed a significant decrease in peripheral
blood mtDNA (59.23±7.2) compared to controls (75.34±9.4),
(P<0.001). In multivariant regression analysis, the decreased
mtDNA copy number was significantly associated with the
presence of MS (odds ratio [OR]: 0.861; confidence interval [CI]:
0.803-0.924; P<0.001). Receiver operating characteristic curve
analysis revealed a significant ability of peripheral blood mtDNA
copy number to distinguish RRMS patients fromcontrols with an
area under the curve (AUC) of 0.859 (CI: 0.785-0.933; P<0.001).
To the best of our knowledge, this is the first study to show the
utility of circulatingmtDNA copy number in the peripheral blood
as a non-invasive biomarker for early detection of MS, which can
offer a clinical applicability over other invasive biomarkers. Our
results also suggest that the decreased peripheral blood mtDNA
copy number is a consequence of impaired mitochondrial
function, which is an early event in MS.
Speaker Biography
Ghada Al Kafaji is an associate professor of molecular genetics in the department of
molecular medicine and Al-Jawahar centre for molecular medicine, genetics and inherited
disorder, and the director of personalized medicine master program in the college of
medicine, Arabian Gulf University, Bahrain. She obtained her MSc degree in molecular
biology from Baghdad University in Iraq and her PhD degree in molecular genetics from
King’s college London, University of London, UK. Following her PhD, she worked in the UK
as a postdoctoral research fellow at the school of medicine, King’s college London, and as
an assistant professor in molecular genetics at the college of science, University college
Kensington. Currently, she is involved in lecturing and tutoring undergraduate and graduate
students and supervising graduate theses. Her research interest includes genetic variations
and novel biomarkers for cancer, diabetes and other complex diseases. She has abundant
publications in the area of Molecular Genetics that have been cited over 350 times. She
participated as an active member in many International Scientific Associations. She acted
as a potential reviewer for many journals and received several certificates of excellence in
reviewing scientific articles. She also received a number of awards for best presentations
and outstanding work in regional and international conferences.
e
:
ghadaa@agu.edu.bh