As a progressive multisystem disorder linked to several genetic disorders, mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) is classified as a mitochondrial disease. MELAS has inconsistent symptoms and progression which can often be misdiagnosed as encephalitis, cerebral infarction, or neoplasms of the brain. Protheragen provides specialized research services for studying the pathological mechanisms of MELAS and possible therapies.
Introduction to MELAS
MELAS disorder, also referred to as MELAS syndrome, is extremely heterogeneous which means it affects multiple systems or organs in the body’s physiology due to mutations that occur in mitochondrial DNA (mtDNA) or nuclear DNA (nDNA). These mutations can impact the MT-TL1 genes responsible for making mitochondrial tRNA or MT-ND5 genes that cause the subunit of the mitochondrial NADH dehydrogenase enzyme. MELAS has several features including, but not limited to, stroke-like episodes (SLEs), diabetes, drowsiness, epilepsy, heart muscle disease, and a lower-than-average height (short stature). The damage to mitochondria makes humans particularly vulnerable to SLEs because of the CNS great affiance on oxidative metabolism. Among the leading features of MELAS, SLEs arguably reign sup.
Fig.1 Mechanism of MELAS. (Wang, Y. X., et al., 2015)
Research Progress of MELAS
The objective of the investigations that MELAS studies focus on its pathogenic mechanism and is on finding new pathogenic gene mutations and novel therapy possibilities. When studying the genomics, mitochondrial biology, and features of a MELAS individual comprehensively, it is believed that the causes and the pathogenesis of the disease will be revealed.
Novel Diagnostic Methods of MELAS
In regards to MELAS, the diagnostic workup will usually check the plasma lactate levels, brain imaging with CT and MRI, and conduct muscle biopsy. Genomic tests should be based on muscle biopsy results since blood may not reveal mtDNA abnormality. Modern approaches like functional MRI (fMRI) and 1H-MRSI can improve the diagnostic accuracy of MELAS.
Fig.2 Diagnosis flow chart for MELAS. (Wang, Y. X., et al., 2015)
Novel Therapies of MELAS
There is no MELAS syndrome therapy available at this time. Supplementation with L-Arginine, citrulline, ATP, vitamins (especially riboflavin), CoQ10, or avoiding infection, fatigue, and long fasting are important to be monitored. MELAS prognosis is influenced by several things such as the types and loading of the genetic mutations, along with the timing of interventional strategies.
Our Services
Being a research service provider with specialization in preclinical research, Protheragen's services in MELAS therapy and research are offered to scientific institutions and pharmaceutical companies.
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Mitochondrial Disease Target Development & Identification Service
We focus on MELAS research at its stages, such as finding as well as validating biomarkers for use in preclinical studies and trials. Enables us to identify progression and therapy response to a biomarker by applying efficient analytical approaches and bioinformatics techniques. |
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Mitochondrial Disease Model Development Service
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
Provide broad-range services for screening and assessment of prospective drugs for 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 tailor the doses and routes of medications to maximize the therapeutic benefit and minimize adverse effects. |
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.
