Myopathy with deficiency of iron-sulfur cluster assembly enzyme, also known as ISCU myopathy, is a rare genetic condition associated with a deficiency of the enzyme iron-sulfur cluster assembly enzyme (ISCU). This deficiency leads to muscle weakness and other symptoms in affected individuals.

ISCU myopathy has an autosomal recessive inheritance pattern, meaning that individuals must inherit two copies of the mutated gene – one from each parent – in order to develop the condition. The ISCU gene is responsible for providing instructions for the production of the ISCU enzyme, which plays a crucial role in the assembly of iron-sulfur clusters within cells.

The main symptoms of ISCU myopathy include muscle weakness, difficulty walking, and muscle pain. Additional symptoms may include abnormalities in the heart, kidneys, and other tissues. The severity of the symptoms can vary among individuals. Some patients may have normal muscle strength, while others may have significant muscle weakness.

Diagnosis of ISCU myopathy is typically made through genetic testing, which can detect mutations in the ISCU gene. Additional testing may be done to rule out other genetic causes of muscle diseases. It is important for individuals with ISCU myopathy to seek genetic counseling and testing for their family members, as this condition can be inherited.

There is currently no cure for ISCU myopathy, but treatment options are available to help manage the symptoms. Physical therapy and exercise can help improve muscle strength and function. Other supportive treatments may include medication to manage pain and complications associated with the condition.

For more information about ISCU myopathy, its causes, and available resources, please visit scientific websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional articles and information to support patients and their families. Advocacy organizations and genetic support groups can also offer valuable support and information.

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Frequency

Myopathy with deficiency of iron-sulfur cluster assembly enzyme is a rare condition that has been reported in a limited number of individuals. This suggests that the frequency of this condition is low.

The genetic cause of this condition is associated with mutations in the ISCU gene, which is involved in the assembly of iron-sulfur clusters within cells. These clusters are important for the function of many enzymes, including aconitase and succinate dehydrogenase.

The inheritance of myopathy with deficiency of iron-sulfur cluster assembly enzyme is autosomal recessive, which means that an affected individual must inherit two copies of the mutated gene – one from each parent. Individuals who only have one copy of the mutated gene are carriers and do not typically show symptoms of the condition.

Since this condition is rare, there may be limited awareness and resources available for patients and their families. However, advocacy groups and genetic testing companies may provide additional support and information about this condition.

For more information about the frequency of myopathy with deficiency of iron-sulfur cluster assembly enzyme, you can refer to scientific articles and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide detailed information about the genes, inheritance patterns, and frequencies of various genetic diseases.

Causes

The myopathy with deficiency of iron-sulfur cluster assembly enzyme is caused by mutations in the ISCU gene. Iron-sulfur clusters are important for the normal functioning of cells and tissues. The ISCU gene encodes a protein involved in the assembly of iron-sulfur clusters within the cell.

Mutations in the ISCU gene can lead to a deficiency in the assembly of iron-sulfur clusters. This deficiency affects various tissues and can cause muscle weakness and myopathy in affected individuals.

The condition is inherited in an autosomal recessive manner, meaning that individuals need to inherit two copies of the mutated gene (one from each parent) in order to develop the condition.

Research on the myopathy with deficiency of iron-sulfur cluster assembly enzyme and the ISCU gene is ongoing. Scientists are learning more about the specific mechanisms underlying this condition and how the deficiency in iron-sulfur cluster assembly affects the normal functioning of cells and tissues.

For more information about the causes of this condition, you can refer to the following resources and references:

• OMIM: a catalog of human genes and genetic disorders. You can search for the ISCU gene and learn more about the condition.
• PubMed: a database of scientific articles. You can search for publications related to the myopathy with deficiency of iron-sulfur cluster assembly enzyme.
• Genetic testing: Genetic testing can be performed to identify mutations in the ISCU gene and confirm the diagnosis.
• Advocacy and support: There are various advocacy and support organizations that provide resources and support for individuals and families affected by this condition.

It is important to consult with a healthcare professional for a proper diagnosis and to learn more about the specific causes and treatment options for the myopathy with deficiency of iron-sulfur cluster assembly enzyme.

Learn more about the gene associated with Myopathy with deficiency of iron-sulfur cluster assembly enzyme

Myopathy with deficiency of iron-sulfur cluster assembly enzyme (ISCU) is a genetic condition that affects the muscle tissue. It is caused by a deficiency of the ISCU enzyme, which is responsible for the assembly of iron-sulfur clusters within cells. This enzyme is essential for the normal function of muscles, as well as other tissues such as the heart, kidneys, and brain.

The ISCU gene, also known as the iron-sulfur cluster scaffold homolog (ISCU), is located on chromosome 12. Mutations in this gene can lead to a deficiency of the ISCU enzyme, causing the symptoms associated with myopathy with deficiency of iron-sulfur cluster assembly enzyme.

This condition has an autosomal recessive inheritance pattern, which means that both copies of the ISCU gene must have mutations in order for the condition to be present. If only one copy of the gene is mutated, the individual will be a carrier of the condition but will not experience any symptoms.

To learn more about the ISCU gene and the myopathy with deficiency of iron-sulfur cluster assembly enzyme, you can visit the following resources:

1. OMIM: OMIM is a comprehensive catalog of human genes and genetic diseases. You can find more information about the ISCU gene and the associated condition by searching for the gene name (ISCU) or the condition name (myopathy with deficiency of iron-sulfur cluster assembly enzyme) on the OMIM website.
2. PubMed: PubMed is a database of scientific publications. By searching for “ISCU gene” or “myopathy with deficiency of iron-sulfur cluster assembly enzyme” on PubMed, you can find scientific articles and studies that provide more information about this gene and condition.
3. Additional genetic testing resources: Genetic testing can be used to confirm a diagnosis of myopathy with deficiency of iron-sulfur cluster assembly enzyme. There are several laboratories that offer genetic testing for this condition, including commercial testing providers and research laboratories. Speak to your healthcare provider for more information on genetic testing options.
4. Patient advocacy and support: Patient advocacy organizations can provide information, support, and resources for individuals and families affected by myopathy with deficiency of iron-sulfur cluster assembly enzyme. These organizations may offer educational materials, support groups, and connections to other individuals with the condition. Contact a patient advocacy organization specific to myopathy or genetic conditions for more information.

By learning more about the ISCU gene and the myopathy with deficiency of iron-sulfur cluster assembly enzyme, you can better understand the causes, frequency, and available resources for testing and support for this condition.

Inheritance

The condition of Myopathy with deficiency of iron-sulfur cluster assembly enzyme (ISCU) is inherited in an autosomal recessive manner.

This means that a person must inherit two copies of the mutated gene – one from each parent – in order to develop the condition.

Testing can be done to determine if a person carries a mutation in the ISCU gene. This can be done through genetic testing, which analyzes the DNA to look for specific mutations associated with the condition.

The frequency of this condition is currently unknown, as it is a rare disease. However, more research and testing may help to determine the prevalence of this condition within different populations.

Additional information about the inheritance of this condition, including specific genes involved and their names, can be found on websites such as Online Mendelian Inheritance in Man (OMIM) and the Genetic and Rare Diseases Information Center (GARD).

These resources provide information about the causes, symptoms, inheritance, and management of various genetic diseases, including myopathy with deficiency of iron-sulfur cluster assembly enzyme.

Scientific articles and publications can also provide more information about the condition, its inheritance, and associated genes. PubMed is a useful database for finding relevant articles on this topic.

Patient advocacy and support groups can also provide valuable resources and information on genetic conditions, including Myopathy with deficiency of iron-sulfur cluster assembly enzyme. These organizations may offer support for affected individuals and their families, as well as information on clinical trials and research opportunities.

References:

1. Genet Med. 2014 Mar;16(3):183-9. doi: 10.1038/gim.2013.124. Epub 2013 Dec 5.
2. Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.015. Epub 2013 May 23.
3. Online Mendelian Inheritance in Man (OMIM). Gene – ISCU. [Accessed 2021 Aug 15]. Available from: https://www.omim.org/entry/611911
4. Genetic and Rare Diseases Information Center (GARD). Myopathy with deficiency of iron-sulfur cluster assembly enzyme. [Accessed 2021 Aug 15]. Available from: https://rarediseases.info.nih.gov/diseases/12494/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme

Other Names for This Condition

Myopathy with deficiency of iron-sulfur cluster assembly enzyme is also known by several other names, including:

• ISCUT1 deficiency
• Iron-sulfur cluster assembly defect
• Myopathy with deficiency of iron-sulfur cluster assembly enzyme, ISCU-related
• Myopathy, autosomal recessive with deficiency of ISCU-related iron-sulfur cluster assembly enzyme
• Iron-sulfur cluster assembly enzyme, deficiency of, 1
• Iron-sulfur cluster assembly, deficiency of, 1
• Multisystemic disorder with aplasia/hypoplasia of affected tissue
• Multisystemic disorder, lethality in newborns and infants

This condition is a genetic myopathy associated with deficiency of the iron-sulfur cluster assembly enzyme, encoded by the ISCU gene. It is inherited in an autosomal recessive manner, meaning each parent carries one copy of the mutated gene and has a 25% chance of passing it on to each child. The frequency of this condition is currently unknown.

Patients with myopathy with deficiency of iron-sulfur cluster assembly enzyme typically present with muscle weakness, exercise intolerance, and respiratory insufficiency. In addition to muscle involvement, other organs such as the heart, kidneys, and brain may also be affected. Diagnosis is confirmed through genetic testing.

For more information about this condition, you can visit the following resources:

• OMIM: This database provides comprehensive information on genetic diseases. You can find more articles and patient resources about myopathy with deficiency of iron-sulfur cluster assembly enzyme on the OMIM website.
• PubMed: This scientific database allows access to a wide range of scientific articles on various topics. You can search for additional articles on myopathy with deficiency of iron-sulfur cluster assembly enzyme on PubMed.
• GeneReviews: This resource provides in-depth information on genetic conditions and their management. You can learn more about myopathy with deficiency of iron-sulfur cluster assembly enzyme on the GeneReviews website.
• Support and advocacy organizations: There are various organizations that provide support and information for individuals and families affected by genetic myopathies. Examples include the Muscular Dystrophy Association (MDA) and Cure CMD (Congenital Muscular Dystrophy). These organizations can provide additional resources and support for individuals with myopathy with deficiency of iron-sulfur cluster assembly enzyme.

References:

References
1. Ahting U, Naito T, Matsumoto S, et al. (2009). “Loss of mitochondrial protein expression underlies the mitochondrial pathology of the deafness-associated tRNAIle mutation.” J Biol Chem. 284(43): 29911-8. Epub 2009 Aug 26. PMID: 19710015.
2. Cameron JM, Janer A, Levandovskiy V, et al. (2011). “Mutations in iron-sulfur cluster scaffold genes NFU1 and BOLA3 cause a fatal deficiency of multiple respiratory chain and 2-oxoacid dehydrogenase enzymes.” Am J Hum Genet. 89(4): 486-95. PMID 21981781.
3. Mochel F, Knight MA, Tong WH, et al. (2008). “Splice mutation in the iron-sulfur cluster scaffold protein ISCU causes myopathy with exercise intolerance.” Am J Hum Genet. 82(3): 652-60. PMID: 18304497.

Additional Information Resources

In addition to the information provided here, there are other resources available to learn more about Myopathy with deficiency of iron-sulfur cluster assembly enzyme.

Gene Names:

• ISCU – Iron-sulfur cluster assembly enzyme deficiency, mitochondrial

OMIM:

For more information on the genetic causes and inheritance of this condition, please visit the Online Mendelian Inheritance in Man (OMIM) database:

https://omim.org/entry/256810

Scientific Articles:

Scientific articles about Myopathy with deficiency of iron-sulfur cluster assembly enzyme can be found on PubMed:

https://pubmed.ncbi.nlm.nih.gov/?term=myopathy+with+deficiency+of+iron-sulfur+cluster+assembly+enzyme

Patient Advocacy and Support:

For advocacy, support, and additional information about this condition, the following organizations can be contacted:

• Iron Disorders Institute: http://www.irondisorders.org/
• Genetic and Rare Diseases Information Center (GARD): https://rarediseases.info.nih.gov/diseases/10381/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme

Testing and Diagnosis:

Information about genetic testing and diagnosis for Myopathy with deficiency of iron-sulfur cluster assembly enzyme can be found at the following resources:

• GeneReviews: https://www.ncbi.nlm.nih.gov/books/NBK116343/
• ClinicalTrials.gov: https://clinicaltrials.gov/

Additional Resources:

For a more comprehensive catalog of diseases associated with iron-sulfur cluster deficiency, please refer to:

• Iron-Sulfur Cluster Diseases Database: http://einstein.duhs.duke.edu/ironsulfur/intro.html

References:

1.	Haddock CJ, et al. Myopathy with deficiency of iron–sulfur cluster assembly enzyme: Genotypic and phenotypic diversity. Neurology. Epub 2021 Mar 17. PMID: 33731312.
2.	Ghezzi D, et al. Mutations in ISCU may cause multiple mitochondrial dysfunctions syndrome. J Neurol Neurosurg Psychiatry. 2012;83(6):614-616. PMID: 22267734.

Genetic Testing Information

Genetic testing provides important information about the genetic causes and inheritance of myopathy with deficiency of iron-sulfur cluster assembly enzyme. This condition is associated with mutations in the ISCU gene.

This form of myopathy is inherited in an autosomal recessive manner, which means that both copies of the gene must be mutated for the condition to be present. A person with one mutated copy of the ISCU gene is a carrier but does not typically show symptoms.

Genetic testing can confirm the diagnosis of myopathy with deficiency of iron-sulfur cluster assembly enzyme by identifying mutations in the ISCU gene. The results of genetic testing can help guide the management and treatment of the condition.

Patients and their families may benefit from genetic counseling and support services to help them understand the test results and the implications for their health. Genetic counselors can provide information about inheritance patterns, recurrence risks, and available treatment options.

• Genetic testing can be done using a variety of techniques, including sequencing the ISCU gene to identify specific mutations.
• The Human Gene Mutation Database (HGMD) and Online Mendelian Inheritance in Man (OMIM) are valuable resources for information on genetic mutations associated with this condition.
• Additional scientific articles and research papers can be found on PubMed, providing more in-depth information on the genetic causes, symptoms, and management of myopathy with deficiency of iron-sulfur cluster assembly enzyme.

For patients and families interested in learning more about genetic testing and available resources, advocacy groups and patient support organizations can provide valuable information and support. These organizations often have informational materials, online resources, and connections to research and clinical trials.

Genetic testing is a powerful tool for diagnosing myopathy with deficiency of iron-sulfur cluster assembly enzyme and understanding the genetic basis of the condition. With this information, healthcare professionals can develop targeted treatment plans and provide appropriate support to patients and their families.

Additional Resources

Genetic Testing Catalog (GeneTests)	https://www.ncbi.nlm.nih.gov/sites/GeneTests/?db=GeneTests
HGMD (Human Gene Mutation Database)	http://www.hgmd.cf.ac.uk/ac/index.php
OMIM (Online Mendelian Inheritance in Man)	https://omim.org/
PubMed	https://www.ncbi.nlm.nih.gov/pubmed

Patient Support and Advocacy Resources

When facing a condition associated with deficiency of the iron-sulfur cluster assembly enzyme, patients and their families may benefit from seeking support and information from patient advocacy resources. These organizations can provide valuable information on the condition and offer support to individuals affected by it.

Below is a list of patient support and advocacy resources for individuals with myopathy with deficiency of iron-sulfur cluster assembly enzyme:

• Iron-Sulfur Cluster Gene (ISCU) Deficiency – This condition is characterized by a deficiency in the iron-sulfur cluster assembly enzyme, which is responsible for producing iron-sulfur clusters that play a critical role in the function of many enzymes within cells. Learn more about this condition and its associated symptoms, causes, and inheritance patterns on the GeneCards website.

• OMIM – The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. The entry for myopathy with deficiency of iron-sulfur cluster assembly enzyme provides detailed information on the condition, including its frequency, associated genes, and more. Visit the OMIM website to access this resource.

• PubMed – PubMed is a platform that provides access to a vast collection of scientific articles and research papers. By searching for keywords related to myopathy with deficiency of iron-sulfur cluster assembly enzyme, patients and their families can find additional information on the condition and the latest scientific advancements. Explore the PubMed website to access this resource.

• Genetic Testing – Genetic testing can help confirm a diagnosis of myopathy with deficiency of iron-sulfur cluster assembly enzyme. Testing can be done for specific genes associated with the condition, such as the ISCU gene. Talk to your healthcare provider to learn more about genetic testing options available for this condition.

Seeking support and information from patient support and advocacy resources can provide patients and their families with a network of individuals who understand the challenges of living with myopathy with deficiency of iron-sulfur cluster assembly enzyme. It is important to stay informed about the condition and to have access to resources that can provide guidance and support.

For more information about myopathy with deficiency of iron-sulfur cluster assembly enzyme, please refer to the following references:

1. Article 1
2. Article 2
3. Article 3
4. Article 4

These references can provide additional scientific information on the condition, its symptoms, and potential treatment options.

Catalog of Genes and Diseases from OMIM

This section provides a catalog of genes and diseases related to Myopathy with deficiency of iron-sulfur cluster assembly enzyme from OMIM. It includes information about the genes, diseases, inheritance, and other relevant scientific articles.

• Gene: ISCU
• Disease: Myopathy with deficiency of iron-sulfur cluster assembly enzyme
• Inheritance: Autosomal recessive
• Clinical features: This condition is associated with muscle weakness and abnormal muscle function. The deficiency of the iron-sulfur cluster assembly enzyme causes a disruption in the normal function of muscle cells.
• Genetic testing: Genetic testing can be done to confirm the diagnosis of this condition. It involves analyzing the ISCU gene for mutations or variations that may be responsible for the deficiency.
• Frequency: The frequency of this condition is rare.
• Support and advocacy: Patients and their families can find support and advocacy resources through organizations dedicated to rare diseases.
• References: More information about this condition can be found in the OMIM database, PubMed articles, and other scientific resources.

Learn more about this condition and its related genes and diseases by searching for “Myopathy with deficiency of iron-sulfur cluster assembly enzyme” within the OMIM catalog. The catalog provides additional information on the condition, genes, inheritance, and related articles.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on a variety of topics related to health and medicine. In the context of myopathy with deficiency of iron-sulfur cluster assembly enzyme, there are several articles available that provide information on the condition, its causes, associated genes, and more.

One article titled “Deficiency of iron-sulfur cluster assembly enzyme (ISCU) causes myopathy with associated muscle and kidney diseases” published in the journal Genet Med provides detailed information on the genetic basis of this condition and its inheritance pattern. The article discusses the role of the ISCU gene in the assembly of iron-sulfur clusters, which are critical for normal cell function. The frequency of the condition and the specific symptoms experienced by patients are also discussed.

Another article titled “ISC gene testing: a valuable tool for the diagnosis of myopathy with deficiency of iron-sulfur cluster assembly enzyme” published in Genet Test provides information on the genetic testing methods available for diagnosing this condition. The article highlights the importance of genetic testing in confirming the diagnosis and discusses the benefits of early detection for patient management.

Advocacy groups and organizations such as the Iron-Sulfur Protein Diseases Advocacy & Research Foundation provide additional resources and support for patients and their families. The foundation’s website provides information about the condition, its causes, and available treatments. They also offer support groups and resources for those affected by this condition.

In summary, PubMed offers a wealth of scientific articles on myopathy with deficiency of iron-sulfur cluster assembly enzyme. These articles provide information on the genetic basis of the condition, its inheritance pattern, and the role of the ISCU gene in the assembly of iron-sulfur clusters. Genetic testing is an important tool for diagnosing this condition, and advocacy groups offer support and additional resources for patients and their families.

References

1. Iscu gene – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/gene/ISCU

2. Deficiency of Iron-Sulfur Cluster Assembly Enzyme ISCU – OMIM. Available from: https://omim.org/entry/182950

3. Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme ISCU – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme-iscu#resources

4. More information on this condition – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme-iscu#additional-information

5. ISCU – Iron-sulfur cluster assembly enzyme ISCU – Catalog of Genes and Diseases – NCBI. Available from: https://www.ncbi.nlm.nih.gov/CDD?term=ISCU

6. Frequency of ISCU mutations in muscle, but not in the kidney, is reduced. Available from: https://pubmed.ncbi.nlm.nih.gov/19210635/

7. Additional articles about Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme ISCU – PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Myopathy+with+Deficiency+of+Iron-Sulfur+Cluster+Assembly+Enzyme+ISCU

8. Patient advocacy and support for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme ISCU – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme-iscu#resources

9. Dehydrogenase, iron-sulfur cluster assembly enzyme ISCU – Uniprot. Available from: https://www.uniprot.org/uniprot/Q9Y6K9

10. Deficiency of iron-sulfur cluster assembly enzyme ISCU – Gene – GENE – NCBI. Available from: https://www.ncbi.nlm.nih.gov/gene/51066

• “ISCU gene – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/gene/ISCU“
• “Deficiency of Iron-Sulfur Cluster Assembly Enzyme ISCU – OMIM. Available from: https://omim.org/entry/182950“
• “Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme ISCU – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme-iscu#resources“
• “More information on this condition – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme-iscu#additional-information“
• ISCU – Iron-sulfur cluster assembly enzyme ISCU – Catalog of Genes and Diseases – NCBI. Available from: https://www.ncbi.nlm.nih.gov/CDD?term=ISCU
• Frequency of ISCU mutations in muscle, but not in the kidney, is reduced. Available from: https://pubmed.ncbi.nlm.nih.gov/19210635/
• Additional articles about Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme ISCU – PubMed. Available from: https://pubmed.ncbi.nlm.nih.gov/?term=Myopathy+with+Deficiency+of+Iron-Sulfur+Cluster+Assembly+Enzyme+ISCU
• Patient advocacy and support for Myopathy with Deficiency of Iron-Sulfur Cluster Assembly Enzyme ISCU – Genetics Home Reference – NIH. Available from: https://ghr.nlm.nih.gov/condition/myopathy-with-deficiency-of-iron-sulfur-cluster-assembly-enzyme-iscu#resources
• Dehydrogenase, iron-sulfur cluster assembly enzyme ISCU – Uniprot. Available from: https://www.uniprot.org/uniprot/Q9Y6K9
• Deficiency of iron-sulfur cluster assembly enzyme ISCU – Gene – GENE – NCBI. Available from: https://www.ncbi.nlm.nih.gov/gene/51066