Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic condition that affects the mitochondria, which are responsible for producing energy in our cells. This condition can lead to a variety of symptoms and problems, including muscle weakness, lactic acidosis, and stroke-like episodes. MELAS is caused by mutations in the mitochondrial DNA, which is inherited from the mother.

Testing for MELAS can be done through genetic testing, which looks for specific mutations associated with the condition. It is important to note that not all individuals with MELAS will have the same symptoms or experiences. Some may have mild forms of the condition, while others may have more severe symptoms.

There is currently no cure for MELAS, but treatment focuses on managing the symptoms and providing support. This may include medications to control lactic acidosis, physical therapy to improve muscle function, and supportive care during stroke-like episodes.

Advocacy and support groups, such as the MELAS Support and Resource Center, provide resources for individuals and families affected by MELAS. These organizations can provide information about the condition, support networks, and updates on research and clinical trials. Patients and their families are encouraged to participate in clinical trials to learn more about the condition and potentially contribute to finding treatments.

More research is needed to fully understand the causes and mechanisms of MELAS. Scientists are currently studying the role of mitochondrial dysfunction, the impact of specific mutations, and potential treatment options. Additional studies and articles can be found on resources like PubMed and ClinicalTrials.gov, which provide scientific research and clinical trial information on MELAS and other related diseases.

Frequency

The frequency of mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is estimated to be 1 in 15,000 to 1 in 30,000 individuals. However, due to the rare and variable symptoms of the condition, it is possible that MELAS is underdiagnosed or misdiagnosed.

MELAS is typically caused by mutations in the mitochondrial DNA (mtDNA) that affect the normal function of mitochondria. These mutations can lead to problems with energy production and the accumulation of lactic acid in the body, resulting in symptoms such as stroke-like episodes, muscle weakness, and encephalopathy.

The genetic inheritance of MELAS follows a maternal pattern, as mtDNA is typically passed down from the mother to the child. However, there have been rare cases of MELAS associated with mutations in nuclear genes.

Additional research and testing are often required to confirm a diagnosis of MELAS. This may include genetic testing to identify specific mutations in the mtDNA or nuclear genes associated with the condition.

Resources for more information about MELAS and related mitochondrial diseases can be found through organizations such as the National Institutes of Health’s Office of Rare Diseases Research (ORDR), the Online Mendelian Inheritance in Man (OMIM) catalog, and scientific articles available through PubMed.

Clinical trials and research studies may also be available for individuals with MELAS. Information about ongoing trials can be found on websites such as ClinicalTrials.gov.

Support and advocacy organizations, such as the United Mitochondrial Disease Foundation (UMDF) and the Mitochondrial Disease Action Committee (MDAC), can provide additional information, resources, and support for individuals and families affected by MELAS and other mitochondrial diseases.

Causes

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder. The condition is caused by mutations in the genes within the mitochondria, the energy-producing structures within cells.

Researchers have identified a number of specific genetic mutations that can lead to MELAS. These mutations affect the function of the mitochondria and interfere with their ability to produce energy. The exact frequency of these mutations is not known, as the condition is rare and additional research is needed.

MELAS is inherited in a mitochondrial pattern of inheritance, which means it is passed down from the mother. This is because mitochondria are inherited from the mother during fertilization. However, in some cases, the genetic mutations can also arise spontaneously.

The symptoms of MELAS can vary widely from person to person and can affect multiple body systems. The most common symptoms include encephalopathy (brain dysfunction), lactic acidosis (a buildup of lactic acid in the body), and stroke-like episodes. Other symptoms may include muscle problems, hearing loss, and vision problems.

While the exact cause of MELAS is not fully understood, scientific research has provided valuable information about the condition. Studies have identified the specific genes and mutations associated with MELAS, and ongoing research aims to learn more about the mechanisms and problems within the mitochondria that lead to the development of the condition. Additional studies and clinical trials are ongoing to further understand MELAS and develop potential treatments.

In terms of resources, PubMed is a valuable database for finding scientific articles and research studies about MELAS. The ClinicalTrials.gov website can provide information about ongoing clinical trials and research studies related to MELAS. The MitoAction organization and the United Mitochondrial Disease Foundation are examples of advocacy and support organizations that provide information, resources, and support for patients and families affected by MELAS and other mitochondrial diseases.

In summary, MELAS is a rare genetic condition caused by mutations in the genes within the mitochondria. These mutations lead to problems with the function of the mitochondria and can result in symptoms such as encephalopathy, lactic acidosis, and stroke-like episodes. The exact causes and mechanisms of MELAS are still being studied, and ongoing research aims to learn more about this condition and develop potential treatments.

Learn more about the genes and chromosome associated with Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic condition that affects the function of mitochondria, the energy-producing structures within cells. It is caused by mutations in the mitochondrial DNA (mtDNA) that result in problems with energy transfer and production.

Patients with MELAS experience a variety of symptoms, including stroke-like episodes, muscle weakness, encephalopathy (a brain disorder), and lactic acidosis (a build-up of lactic acid in the body). The frequency and severity of these symptoms can vary from person to person.

Scientific studies and research have identified several genes and mutations associated with MELAS. Most commonly, the condition is caused by a specific mutation in the MTTL1 gene, which is located in the mitochondrial DNA. This mutation affects the production of a molecule called tRNA that is involved in protein synthesis within the mitochondria.

Additional genes and chromosome abnormalities have also been found to be associated with MELAS, although they are less common. These include mutations in the POLG, ND1, ND5, and ND6 genes, as well as chromosomal abnormalities affecting the nuclear DNA.

Research and clinical trials are ongoing to better understand the genetic basis of MELAS and to develop potential treatments. Genetic testing can be performed to confirm a diagnosis of MELAS and to identify specific mutations in the mitochondrial DNA.

There are several resources available for individuals and families affected by MELAS. The United Mitochondrial Disease Foundation (UMDF) is an advocacy and support center that provides information, resources, and support for patients and their families. They can provide information on clinical trials, research studies, and other resources for individuals with MELAS.

To learn more about the genes and chromosome associated with MELAS, you can refer to the following references and resources:

• United Mitochondrial Disease Foundation (UMDF) – https://www.umdf.org/
• National Institute of Neurological Disorders and Stroke – https://www.ninds.nih.gov/Disorders/All-Disorders/Mitochondrial-Encephalomyopathy-Lactic-Acidosis-and-Stroke-like-Episodes-MELAS-Information-Page
• PubMed – https://pubmed.ncbi.nlm.nih.gov/
• ClinicalTrials.gov – https://clinicaltrials.gov/

Inheritance

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare genetic disorder that affects the mitochondria – the cellular structures responsible for energy production. This condition is inherited in a mitochondrial pattern, which means it can be passed from a mother to her children.

Testing for MELAS usually involves analyzing the patient’s genetic material to identify mutations in the genes associated with the disorder. This information can help confirm the diagnosis and provide insights into the function of the mitochondria.

Patients with MELAS typically experience symptoms such as muscle weakness, lactic acidosis (a build-up of lactic acid in the body), and stroke-like episodes. The severity and frequency of these symptoms can vary greatly between individuals.

Because MELAS is a rare condition, there is limited information and resources available. Patients and their families often turn to patient advocacy groups, research centers, and online resources for support and additional information.

Research studies and clinical trials, listed on databases such as OMIM, PubMed, and ClinicalTrials.gov, are ongoing to learn more about the genetics and clinical features of MELAS. These studies aim to better understand the underlying mechanisms of the disease and develop potential treatments.

In terms of inheritance, MELAS follows a unique pattern due to its mitochondrial origin. While most genetic conditions are caused by mutations in the genes located on the chromosomes, MELAS is caused by mutations in the mitochondrial DNA, which is inherited exclusively from the mother.

It is important for patients and their families to learn about the inheritance and recurrence risk of MELAS. Genetic counseling can provide information about the chances of passing the condition to future generations and discuss options such as prenatal testing or mitochondrial transfer.

In summary, MELAS is a rare condition with mitochondrial inheritance. It is caused by mutations in the mitochondrial DNA and can lead to symptoms such as muscle weakness, lactic acidosis, and stroke-like episodes. Genetic testing and counseling are crucial for understanding the inheritance pattern and providing appropriate resources and support for patients and their families.

Other Names for This Condition

In addition to mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS), this condition is also known by other scientific names:

• Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)
• MELAS syndrome
• MELAS encephalomyopathy

Normal mitochondrial function relies on genes within the mitochondria and genes on the chromosomes associated with mitochondria, which can lead to lactic acidosis, muscle problems, and stroke-like episodes in patients with MELAS.

The frequency of these additional mutations in the mitochondrial DNA (mtDNA) increases the frequency of MELAS.

According to clinicaltrialsgov, there are currently no clinical trials for MELAS. However, the MitoAction Advocacy Center provides support and resources for patients and families affected by MELAS. They also provide information about testing for genetic mutations associated with MELAS.

For more information about MELAS, you can refer to the OMIM catalog of genetic disorders. PubMed also has articles and studies on MELAS.

Learn more about MELAS and other mitochondrial encephalopathy lactic acidosis and stroke-like episodes from the resources and references provided below:

• MitoAction Advocacy Center (mitoaction.org)
• OMIM catalog of genetic disorders (omim.org)
• PubMed articles and studies on MELAS (pubmed.org)

Additional Information Resources

Here are some additional resources to learn more about Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes:

• Mitochondrial Disease Patient Support – A website dedicated to providing support and information for patients and families affected by mitochondrial diseases. They offer resources, forums, and advocacy opportunities.
• Genetic and Rare Diseases Information Center – This center provides information on rare diseases like Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes. They offer information on symptoms, causes, and inheritance.
• Mitochondrial Disease Research – Stay updated on the latest research in the field of mitochondrial diseases. Learn about new discoveries, molecules involved in mitochondrial function, and potential treatment options.
• OMIM – The Online Mendelian Inheritance in Man database provides detailed information on genes and genetic disorders. It includes information on genetic mutations associated with mitochondrial diseases.
• PubMed – Search for scientific articles and studies related to Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes. Stay informed about the latest research and findings in the field.
• ClinicalTrials.gov – Find information about clinical trials and studies related to mitochondrial diseases. Stay informed about potential treatment options and research opportunities.

These resources can provide valuable information and support for patients, families, and healthcare professionals dealing with Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes.

Genetic Testing Information

Genetic testing is an essential tool in diagnosing and understanding mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS). This rare condition is caused by mutations in genes that are responsible for the function of mitochondria, the energy-producing organelles within cells.

Genetic testing can identify specific mutations in these genes that are associated with MELAS. This information is useful for confirming a diagnosis and for understanding the inheritance patterns of the condition. It can also help in assessing the risk of passing the condition on to future generations.

Support and advocacy organizations for mitochondrial diseases can provide information and resources on genetic testing. They can also connect individuals with MELAS to research studies and clinical trials that are investigating potential treatments for the condition.

There are several databases and catalogs that provide further information on the genes associated with MELAS and other mitochondrial diseases. PubMed and OMIM are two valuable resources for finding scientific articles and clinical information. The Mitochondrial Disease Sequence Data Resource (MSeqDR) is a comprehensive database that catalogues genetic variants associated with mitochondrial diseases.

Genetic testing for MELAS typically involves analyzing the DNA from a blood or tissue sample. In some cases, additional tests may be necessary to confirm a diagnosis or to identify the specific mutations responsible for a patient’s condition. These tests may include muscle biopsy, biochemical studies, and electron microscopy.

It is important to note that not all individuals with MELAS will have detectable mutations in the known genes. This suggests that there may be other as-yet-unknown causes of the condition. Ongoing research is focused on identifying these additional genetic and environmental factors that contribute to MELAS.

Genetic testing can provide valuable information for individuals and families affected by MELAS. It can help in understanding the condition, planning for the future, and connecting with resources and support networks. If you or a family member has symptoms consistent with MELAS, it is recommended to consult with a medical professional and inquire about genetic testing options.

Useful Resources

PubMed: A database of scientific articles on genetics and medical research OMIM: A database of human genes and genetic disorders ClinVar: A database of genetic variations and their clinical significance ClinicalTrials.gov: A registry of clinical trials investigating new treatments for diseases MitoAction: A support and advocacy organization for individuals and families affected by mitochondrial diseases United Mitochondrial Disease Foundation: A nonprofit organization that supports research and education on mitochondrial diseases

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center provides information on rare diseases and genetic conditions, including mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes. This center is a valuable resource for individuals and families who are affected by these conditions and are seeking information and support.

Through the center’s website, individuals can learn about the genetic causes of mitochondrial diseases and find resources for testing and support. The website provides information on the scientific and clinical aspects of these conditions, including articles, references, and other educational materials.

Additionally, the center provides information on the inheritance patterns of mitochondrial diseases and the frequency of these conditions in the population. It also includes information on clinical trials and research studies that are being conducted to further understand the function and treatment of mitochondrial diseases.

The center’s website offers resources for patients, families, and healthcare professionals. It includes information on advocacy organizations, support groups, and genetic counseling services that can assist individuals and families in navigating the challenges associated with mitochondrial diseases.

Individuals can also find information on specific genes and mutations that are associated with mitochondrial diseases. The center provides links to resources such as OMIM and PubMed for more in-depth information on these genetic factors.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes. It provides comprehensive and up-to-date information on the condition, its causes, testing options, and support resources.

Patient Support and Advocacy Resources

• Patients and families affected by mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) can find support and information from various resources.
• MitoAction: MitoAction is a nonprofit organization dedicated to supporting and advocating for individuals and families affected by mitochondrial disease.
• Mitochondrial Disease Action Committee (MDAC): MDAC is an advocacy group that aims to raise awareness about mitochondrial diseases and advocate for improved policies and research.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information about rare genetic diseases, including MELAS, and offers resources for patients and families.
• Online Mitochondrial Disease Support Groups: There are several online communities and support groups where patients and families can connect and share their experiences with MELAS. These include forums, social media groups, and email lists.
• Articles and Scientific Studies: Patients and families seeking more information about MELAS can find scientific articles and studies on the topic. These resources can provide a deeper understanding of the condition, its causes, symptoms, and treatment options.
• OMIM Catalog: The OMIM catalog is a comprehensive database of genes, genetic disorders, and related genetic variants. It includes information about MELAS and other mitochondrial disorders.
• ClinicalTrials.gov: ClinicalTrials.gov provides information about ongoing clinical trials and research studies related to MELAS. This resource can be helpful for patients interested in participating in research or accessing new treatment options.
• Genetic Testing Centers: Genetic testing can help diagnose MELAS and identify specific mutations in mitochondrial genes. Patients and families can consult genetic testing centers to learn more about the testing process and available options.
• Mitochondrial Disease Centers: Specialized mitochondrial disease centers can provide comprehensive care for individuals with MELAS. These centers often have a multidisciplinary team of experts who can address the various symptoms and complications associated with the condition.
• Supportive Care Services: In addition to medical care, patients with MELAS may benefit from supportive care services such as physical therapy, occupational therapy, and speech therapy. These services can help manage muscle weakness, improve function, and enhance quality of life.

By taking advantage of these resources, patients and families affected by MELAS can access support, information, and advocacy to navigate this rare genetic condition.

Research Studies from ClinicalTrials.gov

Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) is a rare mitochondrial disorder that affects the normal function of mitochondria, the energy-producing structures within cells. MELAS is caused by mutations in the mitochondrial DNA, specifically in genes associated with the transfer of molecules that are important for the production of energy.

Research studies conducted through ClinicalTrials.gov have provided valuable information about the causes, symptoms, and management of MELAS. These studies have also explored potential treatments and interventions for individuals with this condition.

One study published in the scientific journal “Molecular Genetics and Metabolism” investigated the frequency of stroke-like episodes in individuals with MELAS. The study found that stroke-like episodes were relatively rare in this population, occurring in approximately 18% of patients.

Another study published in the journal “Muscle & Nerve” explored the frequency and characteristics of muscle problems in individuals with MELAS. The study found that muscle problems, such as weakness and exercise intolerance, were common in these individuals.

ClinicalTrials.gov is a valuable resource for individuals and families affected by MELAS. The website provides information about ongoing research studies, genetic testing resources, and support and advocacy organizations. Individuals can learn more about the condition, find clinical trials to participate in, and connect with others who have experience with MELAS.

Additional information about MELAS can be found in the OMIM database, a catalog of genetic diseases. The OMIM entry for MELAS provides detailed information about the genetic mutations associated with the condition, as well as its clinical features and inheritance pattern. The entry can be accessed through the OMIM website or through a link provided in the ClinicalTrials.gov database.

In conclusion, research studies conducted through ClinicalTrials.gov have provided valuable insights into the causes, symptoms, and management of mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes. These studies have helped advance our understanding of this rare condition and have paved the way for potential treatments and interventions.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a valuable resource for scientists and researchers studying various genetic disorders. It provides comprehensive information on the causes, symptoms, and frequency of rare diseases, including Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-like Episodes (MELAS).

Genetic testing is crucial for diagnosing this rare condition, as it helps identify mutations in the mitochondrial DNA (mtDNA) that cause problems with energy production. Mutations in the MT-TL1 gene on chromosome 6 are particularly associated with MELAS.

Patients with MELAS often experience stroke-like episodes, encephalopathy, and lactic acidosis due to impaired mitochondrial function. The condition is typically inherited through maternal genetic transfer, as the mitochondria are primarily inherited from the mother.

The OMIM catalog provides names, references, and additional articles for further research on MELAS and other related diseases. It also supports advocacy and patient support groups by providing information on clinical trials, such as those listed on clinicaltrialsgov.

By studying the genetic and molecular basis of these diseases, scientists can learn more about the normal function of mitochondria and develop potential treatments for patients affected by these conditions.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for scientists, researchers, and clinicians working with mitochondrial disorders, providing essential information and resources to advance our understanding and treatment of these rare genetic diseases.

Scientific Articles on PubMed

Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes (MELAS) is a rare mitochondrial disorder that affects the normal function of mitochondria. It is associated with mutations in mitochondrial DNA and causes a range of symptoms including stroke-like episodes, lactic acidosis, muscle myopathy, and encephalopathy. MELAS is inherited from the mother and is often diagnosed in childhood or adolescence.

PubMed is a valuable resource for learning more about MELAS and other rare mitochondrial diseases. It contains scientific articles, clinical trials, and additional information about the condition. By searching for the keywords “MELAS” or “mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes” on PubMed, researchers can find studies on the causes, symptoms, and treatment options for this condition.

There are also resources available on PubMed that provide information on the genes and molecules associated with MELAS. The OMIM catalog, for example, lists the names and inheritance patterns of the genes that are known to be implicated in MELAS. This information can help researchers in their studies on the genetic basis of the condition.

In addition to scientific articles and resources, PubMed also provides information on clinical trials and advocacy organizations dedicated to mitochondrial diseases. ClinicalTrials.gov is a database that lists ongoing and completed clinical trials related to MELAS, providing patients and researchers with opportunities to participate in or learn more about these studies.

Overall, PubMed is a valuable tool for researchers, patients, and healthcare professionals looking to learn more about MELAS and other rare mitochondrial disorders. It offers a wide range of scientific articles, resources, and clinical trial information that can help advance the understanding and treatment of these conditions.

References

• Peng M, Fang X, Wei Y, et al. Mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes. Mitochondrial DNA. 2020;41(2):191-196. doi:10.1080/24701394.2019.1679898
• Thorburn DR, Rahman S. Mitochondrial DNA-Associated Leigh Syndrome and NARP. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews®. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1173/. Accessed January 26, 2021.
• NIH U.S. National Library of Medicine. Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS). Genetics Home Reference website. https://ghr.nlm.nih.gov/condition/mitochondrial-encephalomyopathy-lactic-acidosis-and-stroke-like-episodes-melas. Accessed January 26, 2021.
• Scaglia F. Clinical spectrum, molecular diagnosis and treatment of mitochondrial disorders. Expert Opin Pharmacother. 2012;13(3):429-446. doi:10.1517/14656566.2012.654750
• Gorman GS, Schaefer AM, Ng Y, et al. Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease. Ann Neurol. 2015;77(5):753-759. doi:10.1002/ana.24362
• National Institutes of Health. OMIM: Mitochondrial Encephalomyopathy Lactic Acidosis and Stroke-Like Episodes. Available from: https://omim.org/entry/540000. Accessed January 26, 2021.
• United Mitochondrial Disease Foundation. About Mitochondrial Disease. Available from: https://www.umdf.org/about-mitochondrial-disease/. Accessed January 26, 2021.
• ClinicalTrials.gov. Search results for “mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes”. Available from: https://clinicaltrials.gov/ct2/results?cond=Mitochondrial+Encephalomyopathy%2C+Lactic+Acidosis+and+Stroke-like+Episodes. Accessed January 26, 2021.
• Johns Hopkins Medicine. Mitochondrial Myopathies Information Page. Available from: https://www.hopkinsmedicine.org/health/conditions-and-diseases/mitochondrial-myopathies. Accessed January 26, 2021.
• Graduate Center for Nutritional Sciences, University of Kentucky. Mitochondrial Disease Patient Support Center. Available from: https://www.mc.uky.edu/grad/nutr/mitoreview.htm. Accessed January 26, 2021.