The LDB3 gene is a key factor in the formation of myofibrillar structures in muscles. Mutations in this gene have been linked to various health conditions, particularly myopathy. This gene plays a crucial role in the proper functioning of the left ventricle of the heart.
Researchers have identified the LDB3 gene as a major cause for myofibrillar myopathy, a muscular disorder characterized by progressive muscle weakness and atrophy. The gene is also implicated in dilated cardiomyopathy, a condition that leads to enlargement of the heart and its decreased ability to pump blood effectively.
The LDB3 gene belongs to a family of domain-binding proteins that interact with other proteins involved in the formation of myofibrils, the contractile units of muscle cells. Mutations in this gene can lead to structural changes in these proteins, disrupting normal muscle function.
For researchers and clinicians, the LDB3 gene serves as an important resource in the genetic testing and diagnosis of myofibrillar myopathy, dilated cardiomyopathy, and other related conditions. The gene is listed in various databases and registries, providing additional information and references to scientific articles that delve into its role in these diseases.
Furthermore, the LDB3 gene is associated with noncompaction cardiomyopathy, a disorder characterized by an abnormal structure in the left ventricle of the heart. Variants in this gene have been linked to both familial and sporadic cases of noncompaction cardiomyopathy, offering important insights into the genetic basis of this condition.
In summary, the LDB3 gene plays a crucial role in several muscular and cardiac disorders. Its understanding provides valuable information for researchers and clinicians alike, driving advancements in genetic testing, diagnosis, and treatment options for individuals affected by these conditions.
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Health Conditions Related to Genetic Changes
Genetic changes in the LDB3 gene can lead to various health conditions. Variants in the LDB3 gene have been associated with myopathy, a disorder that affects the muscles. Myopathy is characterized by the weakening and wasting of the muscles, which can lead to difficulties in movement and muscle function.
Researchers have found that changes in the LDB3 gene can also cause myofibrillar myopathy, a specific type of myopathy. Myofibrillar myopathy is characterized by the formation of abnormal protein aggregates within the muscle cells, known as myofibrils. This condition can lead to muscle weakness, muscle stiffness, and muscle wasting.
In addition to myopathy and myofibrillar myopathy, genetic changes in the LDB3 gene have also been associated with other health conditions. These include dilated cardiomyopathy, a condition characterized by the enlargement of the heart’s ventricular chambers, and left ventricular noncompaction, a condition characterized by the excessive trabeculation of the left ventricle.
Scientific studies and research have provided valuable information on the genetic changes in the LDB3 gene and their association with these health conditions. Various databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, list the genetic changes in the LDB3 gene and provide references to scientific articles and studies.
To diagnose these health conditions related to LDB3 gene changes, genetic testing may be performed. Genetic tests can identify changes in the LDB3 gene and help confirm the diagnosis. Other genes and proteins related to these health conditions may also be tested to provide additional information.
| Health Condition | Gene(s) |
|---|---|
| Myopathy | LDB3 |
| Myofibrillar Myopathy | LDB3 |
| Dilated Cardiomyopathy | LDB3 |
| Left Ventricular Noncompaction | LDB3 |
Genetic changes in the LDB3 gene are listed among the genetic causes of these health conditions. However, it is important to note that genetic changes in other genes may also contribute to the development of these conditions.
References:
- OMIM (Online Mendelian Inheritance in Man) – LDB3 gene
- PubMed – LDB3 gene
Myofibrillar myopathy
Myofibrillar myopathy is a genetic disorder that affects the muscles. It is caused by changes within the LDB3 gene, which provides instructions for producing a protein called LIM domain-binding 3 (LDB3).
Individuals with myofibrillar myopathy may experience weakness and wasting of the muscles, leading to difficulties with movement. This condition is also associated with the development of heart problems, such as dilated cardiomyopathy and left ventricular noncompaction.
Myofibrillar myopathy is listed as a rare disease in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Genetic and Rare Diseases Information Center (GARD). The disease is also included in the Orphanet registry, which provides additional information and resources for researchers and healthcare professionals.
To diagnose myofibrillar myopathy, genetic testing can be performed to identify variations in the LDB3 gene. This can be done through specialized genetic tests offered by various laboratories and medical centers. It is important for individuals with symptoms or a family history of myofibrillar myopathy to consult with a healthcare professional who can recommend appropriate genetic testing.
Scientific articles and research papers on myofibrillar myopathy and related disorders can be found in databases such as PubMed. These articles provide further information on the genetic cause of the condition, changes within the LDB3 gene, and other proteins and genes that may be involved.
References:
- Online Mendelian Inheritance in Man (OMIM): LDB3 gene
- Genetic and Rare Diseases Information Center (GARD): Myofibrillar Myopathy
- Orphanet: Myofibrillar myopathy
- PubMed: Scientific articles on myofibrillar myopathy
Familial dilated cardiomyopathy
Familial dilated cardiomyopathy (DCM) is a genetic disorder that affects the health of the heart muscle and leads to an enlarged and weakened left ventricle. It is the most common form of dilated cardiomyopathy and can cause heart failure and other serious complications.
The cause of familial DCM is often attributed to genetic changes in certain genes, such as the LDB3 gene. Genetic testing can be used to identify these changes and provides valuable information for researchers and healthcare professionals in understanding the underlying mechanisms of the disease.
There are several databases and resources available for accessing information on the genetic changes associated with familial DCM. These include the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic disorders and their associated genes, and the PubMed database, which provides access to scientific articles and references related to familial DCM and other related conditions.
A variant in the LDB3 gene has been listed as one of the genetic changes associated with familial DCM. This variant is also associated with other heart muscle disorders, such as noncompaction cardiomyopathy and myofibrillar myopathy. Genetic testing for this variant can be performed to confirm a diagnosis of familial DCM and to inform treatment decisions.
Researchers have identified multiple genes involved in familial DCM, and ongoing research continues to uncover additional genes and genetic changes associated with the condition. The LDB3 gene, which codes for a protein involved in myofibrillar proteins and muscle function, is one of the genes that has been implicated in familial DCM.
Understanding the genetic changes and underlying mechanisms of familial DCM is crucial for developing targeted therapies and improving patient outcomes. Genetic testing can provide valuable information for healthcare professionals and help guide treatment decisions.
For more information on familial DCM and related conditions, researchers and healthcare professionals can refer to the OMIM catalog, PubMed articles, and other scientific resources. These resources provide comprehensive information on the genetic changes, clinical features, and management of familial DCM and related disorders.
Left ventricular noncompaction
Left ventricular noncompaction (LVNC) is a condition characterized by changes in the muscles of the left ventricle of the heart. It is a form of cardiomyopathy, a group of diseases that affect the structure and function of the heart muscle. LVNC is also sometimes referred to as noncompaction cardiomyopathy or left ventricular hypertrabeculation.
Researchers have identified that mutations in the LDB3 gene can cause LVNC. The LDB3 gene provides instructions for making a protein that helps form and stabilize the structure of muscle cells. Changes in this gene can lead to the formation of noncompaction of the ventricular muscle, affecting the contraction and relaxation of the heart.
LVNC can also be associated with other genetic disorders such as dilated cardiomyopathy and myofibrillar myopathy. Genetic testing can help identify the specific variant or mutation in the LDB3 gene that is causing the condition. This information is useful for diagnosis, prognosis, and guiding treatment options.
There are various resources available for researchers and healthcare providers interested in learning more about LVNC. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes, proteins, and related disorders associated with LVNC. PubMed, a widely used scientific publication database, contains numerous articles and references on LVNC and associated genetic conditions.
In addition to these databases, registries and catalogs dedicated to cardiomyopathy and genetic diseases can provide further information and resources. These resources often contain clinical data, genetic testing options, and updates on research and treatment options for LVNC.
Overall, LVNC is a complex condition with genetic and environmental factors contributing to its development. Understanding the genetic basis of LVNC through research and genetic testing can help improve diagnosis, treatment, and management of this condition.
Other disorders
In addition to LDB3 gene mutations causing myofibrillar myopathy and dilated cardiomyopathy, there are other disorders associated with this gene. These include:
- Noncompaction cardiomyopathy
- Myofibrillar myopathy
- Familial dilated cardiomyopathy
Research has shown that changes in the LDB3 gene can also be related to noncompaction cardiomyopathy, a condition where the ventricular walls of the heart fail to properly compact during development. This can lead to impaired heart function and potentially life-threatening complications.
Testing for mutations in the LDB3 gene can provide valuable information for diagnosing these and other related conditions. By analyzing the genetic variants within this gene, researchers and healthcare professionals can better understand the underlying causes of these disorders.
Several scientific resources and databases, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, provide articles and references on the LDB3 gene and its associated disorders. These resources catalog information on the genetic changes, protein abnormalities, and clinical manifestations of these conditions.
Furthermore, registries and databases dedicated to specific diseases or conditions, like the Myofibrillar Myopathy Registry and the Dilated Cardiomyopathy Registry, offer additional information on testing, genetic counseling, and available treatments.
It is important for individuals with symptoms or a family history of myofibrillar myopathy, dilated cardiomyopathy, or other related disorders to seek genetic testing and consultation with healthcare professionals. Early detection and accurate diagnosis can help guide treatment and management strategies for improved patient outcomes.
Other Names for This Gene
There are several other names for the LDB3 gene, which is also known as ZASP:
- LIM domain binding 3
- cypher
- CYPD
- CYP
- PDLIM7
The LDB3 gene has been associated with various cardiac conditions, including dilated cardiomyopathy and noncompaction cardiomyopathy. It has been cataloged in various databases, such as OMIM, and researchers have identified different variants of this gene that can cause disorders related to cardiac muscles. Testing for mutations in the LDB3 gene can be done for familial cases of dilated cardiomyopathy and noncompaction cardiomyopathy.
Additional resources, such as articles and scientific references, provide information on the LDB3 gene and its role in various cardiac diseases. The LDB3 gene codes for proteins that are involved in the structure and function of the sarcomere, specifically within the myofibrils. Changes or mutations in this gene can lead to changes in the proteins and myofibrillar organization, resulting in various cardiac conditions.
Some of the other genes that are related to the LDB3 gene include the MYBPC3 gene and TNNT2 gene, which are also associated with familial dilated cardiomyopathy and noncompaction cardiomyopathy. Testing for mutations in these genes, along with the LDB3 gene, can provide additional information for genetic testing and diagnosis of these conditions.
| Gene | Condition |
|---|---|
| MYBPC3 | Familial dilated cardiomyopathy |
| TNNT2 | Familial noncompaction cardiomyopathy |
Genetic testing for mutations in the LDB3 gene and other related genes can be done through various health testing facilities and laboratories. The results of such tests can provide valuable information for diagnosis, prognosis, and treatment of cardiac diseases associated with these genes.
Additional Information Resources
For additional information on the LDB3 gene, its related genes, and conditions associated with it, the following resources can be helpful:
- PubMed: A scientific database that provides references to research articles and publications on the LDB3 gene. It is a valuable resource for researchers and healthcare professionals who want to learn more about the gene and its role in genetic diseases.
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genetic disorders, including those caused by changes in LDB3. This resource offers detailed descriptions, genetic testing information, and references to scientific literature.
- Myofibrillar Myopathy Registry: A registry that collects and maintains information on individuals with myofibrillar myopathy, a condition associated with LDB3 gene variants. The registry serves as a valuable resource for patients and researchers interested in this specific condition.
- Genetic Testing: Various laboratories and genetic testing companies offer tests for LDB3 gene variants and related genes. These tests can help diagnose conditions such as familial dilated cardiomyopathy and left ventricular noncompaction.
- Other Databases: There are other databases that list information on genetic diseases and provide resources for researchers and healthcare professionals. These databases include, but are not limited to, the NCBI Gene database and the UniProt protein database.
These additional resources can provide researchers, healthcare professionals, and individuals interested in the LDB3 gene with more information and references to scientific literature.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a catalog of genetic tests and laboratories that provide these tests. Within this registry, there are several tests listed for the LDB3 gene, which is associated with various genetic conditions.
Genetic tests are used to identify changes in an individual’s DNA that may be responsible for certain diseases or disorders. By identifying these genetic changes, researchers and healthcare professionals can better understand the underlying cause of diseases and develop appropriate treatments.
For the LDB3 gene, the Genetic Testing Registry lists tests related to myofibrillar myopathy and noncompaction cardiomyopathy. These conditions affect the muscles and ventricular function of the heart.
Tests listed in the registry may vary for different genes and genetic conditions. The LDB3 gene is also known by other names, including ZASP and Cypher. These tests provide information on genetic variants and changes within the LDB3 gene that may be associated with myofibrillar myopathy and noncompaction cardiomyopathy.
Additional tests listed in the Genetic Testing Registry provide information on other genes and proteins that may be related to these conditions. The registry also includes references to scientific articles and publications that researchers and healthcare professionals can use as resources for further information.
In conclusion, the Genetic Testing Registry offers a comprehensive catalog of genetic tests related to the LDB3 gene and its association with myofibrillar myopathy and noncompaction cardiomyopathy. This registry serves as a valuable resource for researchers, healthcare professionals, and individuals seeking genetic testing for these conditions.
Scientific Articles on PubMed
The LDB3 gene, also known as Z-band alternatively spliced PDZ-containing protein (ZASP), is associated with various genetic disorders including dilated cardiomyopathy, myofibrillar myopathy, and left ventricular noncompaction. Researchers have conducted numerous studies and tests to understand the genetic changes within this gene and its related proteins, as well as their role in the development of these conditions.
PubMed, a scientific information resource, provides a catalog of articles and references on this topic. These articles cover a range of topics including the identification of LDB3 gene variants and their association with different forms of cardiomyopathy and myopathy. The use of genetic testing for diagnosing these diseases and the changes observed in the structure and function of myofibrils in affected muscles is also extensively discussed in these articles.
One of the main focuses of these articles is the familial nature of many of these conditions, with researchers identifying other genes and genetic changes that contribute to the development of these disorders. The role of LDB3 gene mutations in the pathogenesis of left ventricular noncompaction, dilated cardiomyopathy, and myofibrillar myopathy has been described in detail.
Additional resources such as OMIM and other genetic databases provide further information on LDB3 gene variations and their association with these disorders. The articles listed in PubMed offer valuable insights into the complexity and genetic basis of these conditions, as well as potential therapeutic approaches that can be explored.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides researchers and health professionals with a wealth of information related to various genetic conditions. In the context of the LDB3 gene, OMIM offers valuable resources for understanding its role in specific diseases.
One of the conditions associated with the LDB3 gene is familial dilated cardiomyopathy. This condition causes changes in the structure and function of the heart muscles, leading to a weakened left ventricle. The OMIM catalog lists LDB3 as one of the genes known to cause dilated cardiomyopathy.
Additionally, OMIM provides references to scientific articles and databases such as PubMed, where researchers can find further information on the LDB3 gene and its role in cardiomyopathy. This allows researchers to stay up-to-date with the latest discoveries and advancements in the field.
OMIM also lists other related genes and proteins associated with cardiomyopathy, such as myofibrillar proteins. Changes in these proteins can lead to myofibrillar myopathy, a condition characterized by the breakdown and disorganization of myofibrils within muscle fibers.
The OMIM catalog offers a valuable resource for genetic testing and diagnosis. Researchers and health professionals can use OMIM to search for specific gene variants and their associated diseases. This information can be crucial for accurately diagnosing genetic disorders and developing appropriate treatment plans.
In addition to providing information on specific genes and diseases, OMIM also offers a registry for noncompaction cardiomyopathy. This condition involves the failure of the heart muscles to properly compact during development, leading to ventricular noncompaction. OMIM allows researchers and clinicians to access a comprehensive database of patients with this condition and facilitates collaboration and further research.
Overall, the OMIM catalog serves as a valuable tool for researchers, health professionals, and anyone interested in genetic disorders. It provides a wealth of information on genes, diseases, genetic testing, and related resources. By utilizing the information within OMIM, researchers can further their understanding of the LDB3 gene and its role in various conditions.
Gene and Variant Databases
A gene and variant database is a catalog of genetic information related to specific genes and their corresponding variants. These databases are invaluable resources for researchers and clinicians working in the field of genetics.
One such gene that is extensively studied is the LDB3 gene. Variants in this gene have been found to cause dilated cardiomyopathy, familial hypertrophic cardiomyopathy, and myofibrillar myopathy, among other conditions.
The LDB3 gene encodes a protein that is involved in protein domain-binding and is essential for the functioning of myofibrils in cardiac and skeletal muscles. Mutations in this gene can disrupt the structure and function of the protein, leading to muscle weakness and changes in ventricular noncompaction.
Gene and variant databases provide a wealth of information about the LDB3 gene and its associated variants. They include comprehensive lists of gene variants, their names, and the diseases they are known to cause. The databases also provide references and links to scientific articles and other sources of information, such as OMIM and PubMed.
Researchers and clinicians can use these databases to access information about specific gene variants, their clinical significance, and their association with different diseases. They can also use the databases to find testing laboratories and genetic testing options for specific variants.
These gene and variant databases are continually updated as new research and discoveries are made. They play a crucial role in advancing our understanding of genetic diseases and facilitating the development of diagnostic and treatment strategies for patients.
| Key Points |
|---|
| – Gene and variant databases provide comprehensive information about genes and their associated variants. |
| – The LDB3 gene is associated with various cardiac and skeletal muscle disorders, including dilated cardiomyopathy and myofibrillar myopathy. |
| – The LDB3 gene encodes a protein involved in protein domain-binding and myofibril function. |
| – Gene and variant databases include references to scientific articles and resources for further information. |
| – These databases are essential tools for researchers and clinicians working in the field of genetics. |
References
Here are some references related to the LDB3 gene:
- Pubmed – Within this resource, researchers can find additional scientific articles and information on the LDB3 gene.
- OMIM – OMIM is a catalog of human genes and genetic disorders. It provides information on the LDB3 gene and related conditions such as dilated cardiomyopathy and myofibrillar myopathy.
- Genetic Testing Registry – This database lists genetic tests for the LDB3 gene and other genes associated with cardiac disorders and myofibrillar myopathies.
- Protein Data Bank – The PDB contains structural information on proteins, including those encoded by the LDB3 gene. It can be useful for understanding the structure and function of myofibrils and their constituent proteins.
These references can be valuable for researchers, healthcare professionals, and individuals seeking information on the LDB3 gene, its variants, and the associated disorders.