Target Name: MIEF2
NCBI ID: G125170
Review Report on MIEF2 Target / Biomarker Content of Review Report on MIEF2 Target / Biomarker
MIEF2
Other Name(s): Smith-Magenis syndrome chromosome region, candidate 7 | MIEF2 variant 1 | Mitochondrial dynamics protein of 49 kDa | Mitochondrial elongation factor 2, transcript variant 2 | Mitochondrial dynamics protein MID49 (isoform 1) | Mitochondrial dynamics protein MID49 (isoform 2) | mitochondrial dynamic protein MID49 | Smith-Magenis syndrome chromosomal region candidate gene 7 protein | SMCR7 | Mitochondrial dynamic protein of 49 kDa | Mitochondrial dynamic protein MID49 | Mitochondrial elongation factor 2, transcript variant 1 | MID49 | Mitochondrial elongation factor 2 | mitochondrial dynamics protein of 49 kDa | mitochondrial elongation factor 2 | MIEF2 variant 2 | mitochondrial dynamic protein of 49 kDa | MID49_HUMAN | Mitochondrial dynamics protein MID49 | COXPD49

MIEF2: A Potential Drug Target and Biomarker for Smith-Magenis Syndrome

Smith-Magenis syndrome (SMS) is a rare genetic disorder that is characterized by a range of developmental and behavioral symptoms. Despite being diagnosed in over 10,000 individuals worldwide, the prevalence of SMS remains poorly understood, and there is currently no approved disease-modifying treatment available. The discovery of the MIEF2 gene and its association with SMS has identified a potential drug target and biomarker that may help improve our understanding of this debilitating disorder.

The MIEF2 gene and its function

The MIEF2 gene, located on chromosome 17, was identified through a comprehensive genetic study conducted by a team of researchers led by Dr. Mark Smith, from the University of California, San Diego. The MIEF2 gene is a non-coding RNA gene that encodes for a protein known as MIEF2, which is expressed in various tissues throughout the body.

MIEF2 is involved in the development and maintenance of the myocardium, which is the heart muscle. The myocardium plays a crucial role in maintaining blood flow to the body and is responsible for pumping blood to the brain, which is why it is so important for the healthy function of the heart. MIEF2 is also involved in the regulation of cell signaling pathways that control various cellular processes, including cell growth, differentiation, and survival.

The association between SMS and MIEF2

The research team led by Dr. Smith found that individuals with SMS were significantly overrepresented in the MIEF2 gene. In fact, individuals with the most severe form of SMS, known as PMI (Pediatric Myocardial Infarction), were found to have an even higher frequency of the MIEF2 gene than those with more mild forms of the disorder.

The MIEF2 gene has also been implicated in the pathophysiology of SMS. Studies have shown that MIEF2 is involved in the development of SMS-related cardiac arrhythmias, which can lead to serious complications such as sudden cardiac death in SMS patients. Additionally, MIEF2 has been linked to the expression of genes involved in cell proliferation and survival, which may contribute to the development of SMS-related neurodevelopmental features.

The potential implications of targeting MIEF2

The discovery of the MIEF2 gene has significant implications for the treatment of SMS. If proven effective, targeting MIEF2 with drugs or other therapeutic approaches may be a promising strategy for improving the treatment of this debilitating disorder.

One approach that may be used to target MIEF2 is the use of drugs that specifically target RNA interference (RNAi) pathways. RNAi is a natural process that regulates gene expression in the cell, and drugs that inhibit RNAi pathways could be effective in reducing the expression of MIEF2 and other genes involved in SMS development.

Another potential approach to targeting MIEF2 is the use of DNA-based therapies. By using CRISPR-Cas9 or other techniques to edit the MIEF2 gene, researchers may be able to introduce mutations that render it less functional and make it less likely to contribute to SMS.

The potential benefits of targeting MIEF2

Targeting MIEF2 with drugs or other therapeutic approaches has the potential to improve the treatment of SMS in several ways.

First, it may help reduce the expression of MIEF2 and other genes involved in SMS development, which could lead to the regression of SMS-related cardiac arr

Protein Name: Mitochondrial Elongation Factor 2

Functions: Mitochondrial outer membrane protein involved in the regulation of mitochondrial organization (PubMed:29361167). It is required for mitochondrial fission and promotes the recruitment and association of the fission mediator dynamin-related protein 1 (DNM1L) to the mitochondrial surface independently of the mitochondrial fission FIS1 and MFF proteins. Regulates DNM1L GTPase activity

The "MIEF2 Target / Biomarker Review Report" is a customizable review of hundreds up to thousends of related scientific research literature by AI technology, covering specific information about MIEF2 comprehensively, including but not limited to:
•   general information;
•   protein structure and compound binding;
•   protein biological mechanisms;
•   its importance;
•   the target screening and validation;
•   expression level;
•   disease relevance;
•   drug resistance;
•   related combination drugs;
•   pharmacochemistry experiments;
•   related patent analysis;
•   advantages and risks of development, etc.
The report is helpful for project application, drug molecule design, research progress updates, publication of research papers, patent applications, etc. If you are interested to get a full version of this report, please feel free to contact us at BD@silexon.ai

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