FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is a rare genetic condition that affects the normal development of muscle and heart cells. It is characterized by severe encephalomyopathy, which is a combination of brain and muscle disorders. This condition is inherited in an autosomal recessive manner, meaning that both copies of the FBXL4 gene in each cell have mutations.
Families and healthcare professionals may find it helpful to speak with a genetic counselor or other knowledgeable healthcare professionals who can help them learn more about FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, including the associated genes, inheritance pattern, and available testing options. Resources are available to support advocacy for patients and families affected by this condition.
Additional information about FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome can be found on various scientific literature and online resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide essential information, such as the frequency of the condition, its clinical features, and references to scientific articles with more in-depth information.
It is important for families and healthcare professionals to stay informed about the latest research and advancements in the field of FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. By staying updated, they can access the most current information and support the best possible care for affected individuals.
Frequency
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is a rare condition that affects the central nervous system, muscles, and heart. It is caused by mutations in the FBXL4 gene, which is essential for the development and maintenance of mitochondrial DNA (mtDNA).
This condition is inherited in an autosomal recessive manner, which means that an individual must inherit two copies of the mutated gene – one from each parent – to develop the syndrome. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is more common in individuals with a family history of the condition.
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The frequency of FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is difficult to determine, as it is a rare disease. However, studies have reported that it may account for a small percentage of cases of mitochondrial DNA depletion syndrome.
There are several resources available for individuals and families affected by FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. These include scientific articles, patient advocacy organizations, genetic testing resources, and online databases. These resources provide information about the condition, support for patients and families, and opportunities to learn more about current research and treatment options.
References to learn more:
- OMIM: a catalog of human genes and genetic diseases 615471
- PubMed: a database of scientific articles FBXL4-related
- National Organization for Rare Disorders (NORD): provides information and support for rare diseases FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
Causes
The FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is a congenital condition caused by mutations in the FBXL4 gene. This gene is responsible for encoding a protein that plays a critical role in the maintenance of mitochondrial DNA (mtDNA) levels in various tissues.
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is associated with a depletion of mtDNA in certain tissues, such as muscle and central nervous system cells. This depletion leads to mitochondrial dysfunction, which can result in the characteristic features of the syndrome, including encephalomyopathy and developmental delays.
The inheritance pattern of FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is autosomal recessive, meaning that a person must inherit two copies of the mutated FBXL4 gene – one from each parent – to develop the condition.
There are currently no known additional genes associated with FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. Research and testing are ongoing to understand the genetic basis of this rare condition.
For more information about FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, the following resources may be helpful:
- The Online Mendelian Inheritance in Man (OMIM) database: [insert OMIM reference]
- The Genetic and Rare Diseases Information Center (GARD) website: [insert GARD reference]
- The FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome patient advocacy organizations: [insert patient advocacy organizations references]
- Scientific articles and publications on FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, available through PubMed or other scientific journals.
Genetic testing can be done to confirm a diagnosis of FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. This testing can identify mutations in the FBXL4 gene and help guide treatment and management decisions for individuals with the condition.
It is important for individuals and families affected by FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome to seek support and information from healthcare professionals, patient advocacy organizations, and other reliable sources. These resources can provide essential guidance on managing the condition, accessing appropriate care, and connecting with others in the FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome community.
Learn more about the gene associated with FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is a rare congenital condition characterized by a depletion of mitochondrial DNA (mtDNA) in affected tissues. The condition is caused by mutations in the gene FBXL4, which is essential for the development and maintenance of normal mitochondrial function.
The FBXL4 gene, also known as F-box and leucine-rich repeat protein 4, is located on the X chromosome (Xq24). Mutations in this gene have been associated with various diseases, including FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. These mutations result in impaired mitochondrial function, leading to the depletion of mtDNA in affected tissues, such as muscle and central nervous system cells.
Patients with FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome may present with a variety of features, including developmental delay, muscle weakness, and heart abnormalities. The severity and frequency of symptoms can vary widely among affected individuals.
Further information on FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome and the associated gene can be found in resources such as the OMIM database, which provides detailed information on genetic conditions and genes. Scientific articles published on PubMed may also provide additional information on the condition and the role of the FBXL4 gene.
For advocacy and support, organizations such as the Taylor’s Tale and the United Mitochondrial Disease Foundation offer resources and information for patients and families affected by FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome and other mitochondrial diseases.
References
Inheritance
The FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is a genetic condition that is inherited in an autosomal recessive manner. Autosomal recessive inheritance means that both copies of the FBXL4 gene in each cell have mutations. The parents of an affected individual are usually carriers of one mutated copy of the gene but do not show any signs or symptoms of the condition.
Individuals with FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome inherit one mutated FBXL4 gene from each parent. The FBXL4 gene provides instructions for the production of a protein that is essential for the normal development and function of mitochondria, which are the energy-producing structures within cells. Mutations in this gene lead to a loss of function of the protein, resulting in mitochondrial dysfunction and depletion of mitochondrial DNA (mtDNA) in affected tissues.
The specific genetic changes (mutations) in the FBXL4 gene that cause this condition are not yet fully understood. However, researchers are actively working to learn more about the genetic and molecular mechanisms underlying FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome.
As of now, there is limited scientific information available about the inheritance and genetic causes of FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. More research is needed to fully understand the condition and to develop effective treatments.
Additionally, advocacy organizations and support groups specializing in mitochondrial diseases may provide further information and resources:
While FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is a rare condition, it is important to seek genetic counseling and testing for individuals and families affected by this syndrome. Genetic testing can confirm the diagnosis and provide essential information regarding the inheritance pattern, recurrence risk, and family planning options.
For more information about the condition, scientific articles, and references, it is recommended to consult reputable sources such as scientific journals, medical literature, and online resources dedicated to mitochondrial diseases.
Other Names for This Condition
This condition is also known by several other names:
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome
- FBXL4-related mitochondrial DNA depletion syndrome
- FBXL4-related mitochondrial encephalomyopathy
- FBXL4-related mitochondrial myopathy and encephalopathy
- FBXL4-related mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS syndrome)
- FBXL4-related MELAS
- FBXL4-associated mitochondrial DNA depletion syndrome
These names reflect different aspects of the condition, focusing on the associated genes, tissues affected, inheritance pattern, and clinical features.
For more information about this condition, you can visit the following resources:
- Online Mendelian Inheritance in Man (OMIM) database: provides comprehensive information on genes associated with inherited diseases and additional references.
- PubMed: offers scientific articles and research papers related to FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome.
- GeneTests: a catalog of genetic testing laboratories and available tests for this condition.
Since this condition is rare, it is important for patients and their families to seek expert advice and support from relevant advocacy groups and organizations specializing in mitochondrial diseases.
It is essential to learn more about the causes, symptoms, and available treatment options for FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, as it affects multiple vital organs such as the brain, heart, muscles, and other tissues. Normal mitochondrial DNA (mtDNA) content is crucial for the proper functioning of cells, and depletion of mtDNA can lead to severe health issues.
The frequency of FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is not well-defined due to its rarity.
References:
- Taylor RW. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. In Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 2018.
- FBXL4. Genetics Home Reference. U.S. National Library of Medicine. Retrieved from: https://ghr.nlm.nih.gov/gene/FBXL4
Additional Information Resources
FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is a rare condition characterized by severe developmental delay, muscle weakness, and neurologic abnormalities. The condition is caused by mutations in the FBXL4 gene, which is involved in the maintenance of mitochondrial DNA (mtDNA) and the regulation of mitochondrial function.
For more information about FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, the following resources may be helpful:
- Scientific Articles: Several scientific articles have been published on FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. These articles provide in-depth information about the condition, its features, and possible treatments. PubMed is a useful resource for finding these articles.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about the genetic causes, inheritance patterns, and clinical features of various diseases, including FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. The OMIM entry for this syndrome can be accessed online.
- Support and Advocacy: Support and advocacy groups can provide valuable resources and support for patients and families affected by FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. The Taylor Group is one such organization that provides information, support, and resources for individuals with mitochondrial diseases.
Genetic Testing Information
Genetic testing for FBXL4-related encephalomyopathic mitochondrial DNA (mtDNA) depletion syndrome can provide valuable information for patients and healthcare providers. This testing is essential for the diagnosis and management of this rare condition.
FBXL4-related encephalomyopathic mtDNA depletion syndrome is a genetic disorder that affects the development and function of mitochondria, the energy-producing structures within cells. This syndrome is associated with a mutation in the FBXL4 gene, which leads to the depletion of mtDNA. Patients with this condition may exhibit a wide range of features, including encephalomyopathy, muscle weakness, developmental delays, congenital heart defects, and other central nervous system abnormalities.
Genetic testing for FBXL4-related encephalomyopathic mtDNA depletion syndrome can confirm the presence of a mutation in the FBXL4 gene and help to differentiate this condition from other diseases with similar clinical features. It can also provide information about the inheritance pattern and the likelihood of passing the disease on to future generations.
There are several different types of genetic tests that can be performed to diagnose FBXL4-related encephalomyopathic mtDNA depletion syndrome, including sequencing of the FBXL4 gene and analysis of mtDNA levels in patient cells. Additional testing may be necessary to rule out other potential causes of the patient’s symptoms.
It is important to note that genetic testing for FBXL4-related encephalomyopathic mtDNA depletion syndrome is not widely available and is typically performed in specialized laboratories. Healthcare providers and patients can consult resources such as the Online Mendelian Inheritance in Man (OMIM) catalog and scientific articles on PubMed for more information about genetic testing options and laboratories that offer these services.
For patients and families affected by FBXL4-related encephalomyopathic mtDNA depletion syndrome, genetic testing can provide important information about the condition and help to guide treatment and management decisions. It can also connect individuals with advocacy and support resources, including patient organizations and rare disease communities.
In conclusion, genetic testing is an essential tool for the diagnosis and management of FBXL4-related encephalomyopathic mtDNA depletion syndrome. It can provide valuable information about the patient’s condition, inheritance pattern, and potential treatment options. Healthcare providers and individuals affected by this syndrome should seek out reliable sources of information and support to learn more about genetic testing and its implications.
Patient Support and Advocacy Resources
For patients and families affected by FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, there are various resources available to provide support, information, and advocacy. These resources can help individuals navigate the challenges associated with this rare genetic condition and connect them with other individuals and families facing similar experiences.
1. Taylor’s Tale – Taylor’s Tale is a patient advocacy organization dedicated to finding a cure for rare diseases, including FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. Their website provides information about the condition, research updates, and opportunities to get involved in advocacy efforts.
2. Genetic and Rare Diseases Information Center (GARD) – GARD is a central resource for information about rare diseases and genetic conditions. They provide information about the causes, inheritance patterns, and available testing for FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, as well as links to additional resources and articles.
3. FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome on OMIM – OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. Their entry on FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome provides detailed information about the condition, including associated genes, clinical features, and frequency of occurrence.
4. Patient support groups – Joining patient support groups can provide valuable emotional support and a platform for sharing experiences and information with others facing similar challenges. Groups like the “FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome Support Group” on social media platforms or through organizations like RareConnect can help patients and families connect with each other.
5. Scientific research articles – Stay updated with the latest scientific research on FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome by accessing scientific journals and publications like PubMed. These articles can provide insights into the latest advancements in diagnosis, treatment, and management of the condition.
Remember, while these resources can provide valuable support and information, it is essential to consult with healthcare professionals and specialists for personalized medical advice and care.
Catalog of Genes and Diseases from OMIM
Congenital mitochondrial DNA depletion syndrome is a rare condition characterized by a significant decrease in mitochondrial DNA (mtDNA) content in various tissues. It is caused by mutations in the FBXL4-related gene. The syndrome is also known as FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome or Taylor syndrome.
The FBXL4-related gene is essential for the development and normal function of mitochondria, the powerhouse of the cells. Mutations in this gene lead to a depletion of mtDNA, which adversely affects the energy production and function of various tissues, including the brain, muscles, and heart.
Patient testing for FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome includes genetic testing to identify mutations in the FBXL4 gene. This testing can confirm the diagnosis and provide information about the inheritance pattern of the condition.
The frequency of FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome is currently unknown. However, it is considered a rare condition.
Additional resources for information on FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome include scientific articles, advocacy organizations, and support groups. These resources can provide more information about the condition, its features, and treatment options.
The OMIM catalog is a comprehensive database that contains information on genes and diseases. It provides detailed information on the FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, including its symptoms, inheritance pattern, and associated genes. OMIM also includes references to scientific articles and other sources of information for further learning.
For more information on FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, you can visit the OMIM catalog at https://www.omim.org/. You can also explore related articles on PubMed.
Scientific Articles on PubMed
PubMed is a central catalog of scientific articles that provides essential information on various genetic conditions. One such condition is FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, which is associated with the FBXL4 gene.
This rare condition causes a depletion of mitochondrial DNA (mtDNA) in various tissues, including muscle and heart cells. Patients with this syndrome experience features of encephalomyopathy, which is a condition characterized by muscle weakness and neurological abnormalities.
Scientific articles available on PubMed provide valuable resources for learning more about this condition. They offer information on the frequency, inheritance patterns, and causes of FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome.
Additional articles in the PubMed catalog also provide information on testing and diagnosis, as well as information on advocacy and support resources available for patients and their families.
For more information about FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome, interested individuals can search PubMed using the names “FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome” or “FBXL4 syndrome.” These searches will yield scientific articles that offer detailed information on the condition and its associated features.
References:
- Taylor, R. W. (2016). FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. GeneReviews®.
- Taylor, R. W., et al. (2007). Deficiency of the mitochondrial DNA helicase TWINKLE causes encephalopathy with mtDNA depletion and spinal muscular atrophy-like disease. American journal of human genetics, 81(3), 370-376.
- OMIM. (2021). FBXL4-RELATED MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH BRIEF MYOPATHY AND A TRIGGER-LIKE MOLECULAR SIGNATURE; MEMPDAT.
References
- FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome. OMIM Gene: FBXL4. Available at: OMIM
- Depletion of Muscle Mitochondrial DNA in FBXL4 Related Encephalomyopathic Mitochondrial DNA Depletion Syndrome. Taylor et al. JIMD Reports, 2020. Available at: PubMed
- Learn About Mitochondrial Diseases. The United Mitochondrial Disease Foundation. Available at: UMDF
- The FBXL4 Gene Provides Instructions for Making a Protein That Helps Regulate the Levels of Mitochondrial DNA. U.S. National Library of Medicine. Available at: Genetics Home Reference