The mitochondrial disease known as Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is a progressive multisystem disorder associated with various genetic defects. MELAS exhibits unpredictable clinical presentations and course, often leading to misdiagnosis as encephalitis, cerebral infarction, or brain neoplasms. Protheragen offers specialized research services aimed at investigating the pathological mechanisms of MELAS and exploring potential treatments.
Introduction to MELAS
MELAS, also referred to as MELAS syndrome, is a maternally inherited disorder that manifests in a diffuse multisystemic fashion due to mutations in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA), specifically the MT-TL1 gene responsible for encoding mitochondrial tRNA and the MT-ND5 gene responsible for encoding subunits of mitochondrial NADH dehydrogenase. Its clinical presentation encompasses stroke-like episodes (SLEs), epilepsy, lactic acidemia, myopathy, hearing impairment, diabetes, cardiomyopathy, and short stature. Given the central nervous system's strong dependence on oxidative metabolism, mitochondrial damage predisposes individuals to SLEs which are the predominant features of MELAS.
Fig.1 Mechanism of MELAS. (Wang, Y. X., et al., 2015)
Research Progress of MELAS
The current focus of research on MELAS lies in comprehending its pathogenic mechanism, identifying novel pathogenic gene mutations, and exploring potential treatments. By conducting comprehensive investigations into the genomics, mitochondrial biology, and clinical manifestations of individuals with MELAS, it is anticipated that the etiology and pathogenesis of this condition can be elucidated.
Novel Diagnostic Methods of MELAS
The diagnostic workup for MELAS typically involves evaluating plasma lactate levels, conducting brain imaging (CT and MRI), and performing muscle biopsy. Genetic testing should be guided by the findings of muscle biopsy, as mtDNA abnormalities may not be detectable in blood. Advanced techniques such as functional MRI (fMRI) and 1H-MRSI can enhance the diagnosis of MELAS.
Fig.2 Diagnosis flow chart for MELAS. (Wang, Y. X., et al., 2015)
Novel Therapies of MELAS
Currently, there is no specific treatment available for MELAS syndrome. However, therapeutic approaches such as supplementation with L-arginine, citrulline, ATP, vitamins (including riboflavin), and CoQ10 can be beneficial in improving the prognosis of patients. Additionally, it is important to avoid triggers like infection, fatigue, and prolonged fasting. The prognosis of MELAS depends on various factors including the location and burden of genetic mutations as well as the timing of interventions.
Our Services
As a contract research organization (CRO) specializing in preclinical research, Protheragen offers the following services for MELAS therapy and research to scientific institutions, and pharmaceutical companies.
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Mitochondrial Disease Target Development & Identification Service
We are dedicated to the identification and validation of biomarkers for MELAS as an assessment tool in drug development and clinical trials. Our utilization of advanced analytical techniques and bioinformatics methods enables us to identify disease progression- and treatment response-associated biomarkers. |
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Mitochondrial Disease Model Development Service
We employ advanced in vitro cellular and in vivo animal models to accurately simulate the characteristics and symptoms of MELAS, thereby providing a robust platform for facilitating new drug development. |
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Drug Screening Service
We offer comprehensive drug screening and evaluation services to assist clients in identifying potential therapeutic targets and candidate compounds. |
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Preclinical Research Service for Drug Development
We utilize preclinical data and model study findings to inform the selection of drug dosing and administration regimens, aiming to enhance therapeutic efficacy while minimizing the risk of adverse reactions. |
Our Advantages
If you have a keen interest in our MELAS research services, kindly contact us for further elucidation and to schedule a consultation session. We eagerly anticipate collaborating with you towards the advancement of MELAS therapy and research.
Reference
- Wang, Y. X., & Le, W. D. (2015). Progress in Diagnosing Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episodes. Chinese medical journal, 128(13), 1820–1825.
