Mitochondrial DNA Copy Number as a Biomarker of Multiple Sclerosis.

Multiple sclerosis (MS) is a chronic autoimmune disease that affects the central nervous system (CNS). In its early stages, it results in inflammation, demyelination, and axonal loss. Egypt has the highest rates in the Middle East region. The pathogenicity of MS involves mitochondrial function. Damage to mitochondrial DNA (mtDNA) can produce variation in the copy number (CN) and decline in mitochondrial function. Our goal was to determine the potential of mtDNA-CN as a biomarker of MS and the progression of the disease. The study included 25 patients with relapsing remitting MS (RRMS) and 25 age and sex matched apparently healthy control. Two peripheral blood samples were collected from each patient, one during the remission phase and the other during the phase of relapse. A quantitative real-time polymerase chain reaction (qPCR) was performed to assess CN of mitochondrial DNA. There was a statistically significant decline in the number of mtDNA copies during the remission phase as compared to controls (p < 0.01), yet no difference was seen between mtDNA-CN in relapsing subjects versus controls. Moreover, the copy number of mtDNA during the relapse phase was significantly higher than the remission phase suggesting the ability of mtDNA to differentiate between remission and relapse phases (p < 0.05). Our study observed that mtDNA-CN at a cut off (0.75), can differentiate between RRMS patients in the remission phase and controls with a sensitivity of 56%, specificity 84%, positive predictive value (PPV) 65.6% and negative predictive value (NPV) 77.8%, and at a cut off (1), mtDNA-CN can differentiate between remission and relapse MS patients with a sensitivity 72%, specificity 56%, PPV 62.1% and NPV 66.7%. In conclusion, mtDNA-CN can be proposed as a biomarker of MS.

Clinical characteristics of patients with multiple sclerosis enrolled in a new registry in Egypt.

BACKGROUND: Epidemiological studies of multiple sclerosis (MS) are lacking in Egypt. OBJECTIVE: To study the characteristics of Egyptian patients with multiple sclerosis in a new registry in a major tertiary referral centre in Cairo, Egypt. SUBJECT AND METHODS: Patients were from the project MS database of the Multiple Sclerosis Unit at Ain Shams University Hospitals (N=950). We conducted a detailed medical history and examination including the Expanded Disability Status Scale (EDSS). RESULTS: Females represented 72% of subjects (female: male ratio 2.57:1). The mean age of disease onset was 26.1±7.6 years. Relapsing-remitting MS (RRMS) was the most common presentation (74.6%). Visual or sensory symptoms were the most common at presentation with RRMS, while motor symptoms were the most common presentation in other types of MS. Time to diagnosis was delayed up to 2 years in 27.8% of patients. The mean EDSS score was 3.6±2.1; 55% had EDSS≤3. About half (49%) received a disease-modifying drug. Progressive MS and motor presentation were associated with higher disability. CONCLUSIONS: This is the first documented MS registry from Egypt. The clinical characteristics of MS in Egypt was similar to other Arab countries and western countries. MS is more common among females in Egypt, with RRMS being the most common presentation. Visual symptoms and motor symptoms were the most common presentations in RRMS and progressive MS, respectively. Our findings also highlight the value of establishing registries in Egypt in order to be able to study, prospectively, the clinical course of the disease, the response to various DMD's and the epidemiology of MS in Egypt.