The TAFAZZIN gene is associated with a variety of health conditions and disorders. It plays a crucial role in the production and maintenance of cardiolipin, a type of fat that helps cells’ energy-producing structures function efficiently. Mutations in the TAFAZZIN gene can cause a condition called Barth syndrome, which is characterized by a range of symptoms including cardiomyopathy, infections, and changes in muscle tone.
Testing the TAFAZZIN gene can be helpful in diagnosing and understanding these conditions. There are various genetic tests available that can detect changes or variations in the TAFAZZIN gene. Additionally, databases such as OMIM and Genet provide additional information on the gene, including related scientific articles and references.
Barth syndrome and associated conditions, such as noncompaction cardiomyopathy and dilated cardiomyopathy, can have significant impacts on individuals’ health. Therefore, understanding the role of the TAFAZZIN gene in these conditions is crucial for both diagnosis and management. Testing for mutations in this gene can provide important information for medical professionals and genetic counselors, allowing them to efficiently identify and manage these conditions.
In summary, the TAFAZZIN gene is a key gene involved in the development of various health conditions, particularly those affecting the heart and cardiovascular system. Testing this gene can help diagnose and manage these conditions, providing valuable information for healthcare professionals and individuals affected by these disorders.
Health Conditions Related to Genetic Changes
The TAFAZZIN gene provides instructions for making a protein called tafazzin, which is involved in the production of cardiolipin, a type of fat molecule found in the membrane of mitochondria, the cell’s energy-producing structures. Mutations in the TAFAZZIN gene can lead to various health conditions.
Barth Syndrome
Mutations in the TAFAZZIN gene are the cause of Barth syndrome, a rare genetic condition characterized by heart abnormalities, weakened muscles, and low levels of a type of fat called linoleic acid. This condition affects multiple body systems, including the heart, immune system, and skeletal muscles.
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Dilated Cardiomyopathy
Changes in the TAFAZZIN gene can also cause dilated cardiomyopathy, a condition in which the heart’s ability to pump blood efficiently is reduced. This condition is characterized by an enlarged and weakened left ventricle, the main pumping chamber of the heart. Dilated cardiomyopathy can lead to symptoms such as shortness of breath, fatigue, and fluid retention.
Left Ventricular Noncompaction
Genetic changes in the TAFAZZIN gene have been associated with left ventricular noncompaction, a condition in which the muscle in the left ventricle of the heart fails to develop properly. This can lead to complications such as heart failure, abnormal heart rhythms, and blood clot formation.
Additional health conditions related to mutations in the TAFAZZIN gene may exist, as scientific research continues to uncover new information. It is important to consult with healthcare professionals and genetic testing resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed, for more specific information and references on these conditions.
Genetic testing can be used to identify mutations in the TAFAZZIN gene in individuals presenting with symptoms or a family history of these conditions. Testing can help with the diagnosis, management, and genetic counseling for affected individuals and their families.
For more information and resources on TAFAZZIN gene-related health conditions, these databases and registries may be useful:
- The Barth Syndrome Foundation
- The Genetic and Rare Diseases Information Center
- The National Organization for Rare Disorders (NORD)
- The Cardiomyopathy Association
It is important to stay updated on the latest scientific articles, research, and clinical trials related to TAFAZZIN gene-related conditions, as new treatments and management strategies may become available.
Barth syndrome
Barth syndrome, also known as 3-methylglutaconic aciduria type II, is a rare genetic disorder characterized by cardiomyopathy, neutropenia, skeletal muscle weakness, and growth delay. It is caused by mutations in the TAFAZZIN gene, which is involved in the production of a lipophilic substance called cardiolipin. This substance is essential for the normal functioning of mitochondria, the “powerhouse” of the cell.
One of the main features of Barth syndrome is dilated cardiomyopathy, a condition where the left ventricular pump of the heart becomes enlarged and weakened. This can lead to heart failure and other complications. Some individuals with Barth syndrome also have noncompaction cardiomyopathy, a rare condition where the walls of the left ventricle have a spongy appearance due to abnormal development.
To diagnose Barth syndrome, genetic testing is often performed to detect mutations in the TAFAZZIN gene. However, since mutations in this gene are not the only cause of the condition, additional testing may be necessary. This can include laboratory tests to measure cardiolipin levels or imaging studies to evaluate the structure and function of the heart.
Barth syndrome is inherited in an X-linked recessive manner, which means it primarily affects males. Females who carry a mutation in the TAFAZZIN gene may have milder symptoms or be asymptomatic.
The Barth Syndrome Registry is a resource that provides information on this condition and related scientific articles. It catalogues genetic and clinical information from individuals with Barth syndrome to facilitate research and improve understanding of the condition.
References to articles and databases related to Barth syndrome:
Familial dilated cardiomyopathy
Familial dilated cardiomyopathy (DCM) is a biological condition characterized by the enlargement of the heart’s left ventricle and inefficiency in pumping blood. It is a type of cardiomyopathy, which refers to diseases that affect the heart muscle.
DCM can be caused by genetic mutations, with one of the genes associated with this condition being the TAFAZZIN gene. Genetic testing is used to identify changes or variants in this gene to diagnose familial DCM.
In addition to familial DCM, genetic changes in the TAFAZZIN gene have been linked to other cardiac conditions such as Barth syndrome and left ventricular noncompaction.
The Online Mendelian Inheritance in Man (OMIM) database provides further information on the genetic changes in the TAFAZZIN gene, including associated diseases and conditions. Scientific articles and references can be found in databases such as PubMed.
Testing for familial DCM and related conditions may involve additional genetic tests for other genes known to be associated with these disorders. It is essential to consult healthcare professionals for accurate diagnosis and management of these conditions.
Resources such as registries, health organizations, and genetic testing companies provide further information and resources for individuals and families affected by familial DCM. These resources may include information about symptoms, treatment options, support groups, and ongoing research.
| Resource | Website |
| Familial Dilated Cardiomyopathy Registry | www.familialdcm.org |
| Genetic and Rare Diseases Information Center | www.rarediseases.info.nih.gov |
| Cardiomyopathy Association | www.cardiomyopathy.org |
It is important to note that the information provided here is a brief overview of familial DCM and the genetic changes associated with the TAFAZZIN gene. For more comprehensive and up-to-date information, it is recommended to consult reliable sources, medical professionals, and genetic counselors.
Left ventricular noncompaction
Left ventricular noncompaction (LVNC) is a condition in which the normal spongy structure of the left ventricular myocardium is replaced by trabeculations, resulting in thickened and prominent trabeculae. This condition is also called “spongiform cardiomyopathy” or “hypertrabeculation syndrome”.
Limited research suggests that LVNC is mainly caused by genetic factors. Mutations in the TAFAZZIN (TAZ) gene have been identified as one of the possible causes of LVNC. TAZ gene is responsible for the production of tafazzin, a protein involved in cardiolipin metabolism, which plays a crucial role in maintaining the structure and function of mitochondria.
According to OMIM (Online Mendelian Inheritance in Man) and other genetic databases, mutations in TAZ gene are associated with various conditions, including Barth syndrome, dilated cardiomyopathy, and other genetic disorders affecting the heart and skeletal muscles.
Diagnosis of LVNC involves various tests, including echocardiogram, cardiac magnetic resonance imaging (MRI), and genetic testing to detect mutations in TAZ gene. These tests can help identify the noncompaction of the left ventricle and rule out other conditions with similar symptoms.
Left ventricular noncompaction syndrome can present with various symptoms, including heart failure, arrhythmias, sudden cardiac death, and blood clot formation. Infections and other diseases can also trigger or worsen the symptoms and complications in individuals with LVNC.
For additional information and resources on left ventricular noncompaction, interested individuals can refer to scientific articles, registries, and online catalogs such as PubMed, Online Mendelian Inheritance in Man (OMIM), and Genetic Testing Registry.
Other disorders
The TAFAZZIN gene is associated with several other disorders. These disorders include:
- Barth syndrome: A condition characterized by a variety of symptoms, including cardiomyopathy (a disease of the heart muscle), muscle weakness, and growth delays. The TAFAZZIN gene provides instructions for making a protein that is involved in cardiolipin production, a fatty acid found in the inner mitochondrial membrane.
- Dilated cardiomyopathy: A condition in which the heart’s ability to pump blood is impaired due to the enlargement and weakening of the heart muscle. Changes in the TAFAZZIN gene can cause dilated cardiomyopathy.
- Noncompaction cardiomyopathy: Also known as left ventricular noncompaction (LVNC), this condition is characterized by deep trabeculations (compartment-like structures) in the left ventricle of the heart. Mutations in the TAFAZZIN gene can lead to noncompaction cardiomyopathy.
For additional information on these conditions, scientific articles, and resources related to the TAFAZZIN gene, please refer to the following databases and registries:
- OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genetic disorders, including those associated with the TAFAZZIN gene.
- PubMed: A database of scientific articles that includes research on the TAFAZZIN gene and its related disorders.
- Familial Dilated Cardiomyopathy Registry: A registry that collects information on individuals with familial dilated cardiomyopathy, including any genetic variants in the TAFAZZIN gene.
Testing for changes in the TAFAZZIN gene can be done through genetic tests conducted by healthcare professionals. These tests can help diagnose the presence of related disorders and provide valuable information for treatment and management.
Other Names for This Gene
- Cardiomyopathy, dilated, with noncompaction, left ventricular
- Tafazzin, related
- Noncompaction of the left ventricular myocardium with or without dilated cardiomyopathy
- Tafazzin gene
- TTAA repeat-containing adjacent to the first exon of tafazzin
- Barth syndrome
- BTHS
- Cardioskeletal myopathy
- Cardiomyopathy dilated with woolly hair and keratoderma
- Cardiomyopathy with or without left ventricular noncompaction
- Cardioskeletal syndrome
- Familial dilated cardiomyopathy with conduction defect due to tafazzin variants
- Linoleoyl-CoA desaturase gene C10 isolated from rat heart cells
- TAZ
Additional Information Resources
The TAFAZZIN gene is responsible for the production of an enzyme called tafazzin, which plays a crucial role in the efficient production of cardiolipin, a lipid found in the inner membrane of the mitochondria. Mutations in the TAFAZZIN gene can cause a condition called Barth syndrome, which is characterized by cardiomyopathy, skeletal muscle weakness, growth delays, and infections.
If you or a loved one are affected by Barth syndrome, genetic testing can help identify changes (variants) in the TAFAZZIN gene that are related to this condition. Genetic testing can also be used to determine if the mutation is familial (inherited) or de novo (not inherited). However, it is important to note that genetic tests cannot provide a definitive diagnosis for all individuals with Barth syndrome, as there may be other genes involved that have not yet been identified.
For more information on genetic tests for Barth syndrome and related conditions, the following resources may be helpful:
- OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders. You can search for specific genes or diseases related to Barth syndrome, as well as find references to scientific articles and additional resources. Visit the OMIM website for more information.
- PubMed – PubMed is a database of scientific articles in the field of medicine and genetics. You can search for specific keywords like “Barth syndrome” or “TAFAZZIN gene” to find relevant research articles on this topic.
- Genetics Home Reference – Genetics Home Reference is a health information resource provided by the U.S. National Library of Medicine. It provides easy-to-understand information on genetic conditions, including Barth syndrome, and links to additional resources.
- Barth Syndrome Foundation – The Barth Syndrome Foundation is a non-profit organization that provides support and resources for individuals and families affected by Barth syndrome. Their website includes educational materials, research updates, and information on clinical trials.
- Cell Biol Genet – Cell Biol Genet is a scientific journal that publishes research articles on cellular biology and genetics. You can search their database for articles related to Barth syndrome and the TAFAZZIN gene.
It is important to consult with healthcare professionals and genetic counselors to understand the implications of genetic testing and to interpret the results in the context of your specific health condition.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in understanding the health conditions and diseases caused by genetic changes. The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests available for various conditions and diseases.
Tafazzin gene, also known as the TAFAZZIN gene, is associated with several disorders, including Barth syndrome. This gene controls the production of tafazzin, which is needed for efficient energy production in cells.
Genetic tests listed in the GTR related to the TAFAZZIN gene can help diagnose and identify variants in this gene that may cause diseases like Barth syndrome, dilated cardiomyopathy, and left ventricular noncompaction.
These tests cannot only identify changes in the TAFAZZIN gene but also provide additional information on other genes and variants associated with these conditions. The GTR provides a curated list of these tests, along with references to scientific articles, databases like OMIM and PubMed, and other resources.
Here is a list of the tests listed in the GTR for TAFAZZIN gene-related disorders:
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Test 1: Genetic test for Barth syndrome – This test detects variants in the TAFAZZIN gene that cause Barth syndrome. It helps diagnose individuals with this condition.
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Test 2: Genetic test for dilated cardiomyopathy – This test identifies genetic variants associated with dilated cardiomyopathy, including those in the TAFAZZIN gene.
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Test 3: Genetic test for left ventricular noncompaction – This test detects genetic changes related to left ventricular noncompaction, and it includes analysis of the TAFAZZIN gene.
These tests are performed using various genetic testing methods, such as DNA sequencing and molecular analysis. They can provide valuable information for individuals suspected of having genetic disorders related to the TAFAZZIN gene.
It is important for healthcare professionals and individuals seeking genetic testing to consult with experts in genetic medicine and refer to the GTR for the most up-to-date and accurate information on available tests.
References:
- Biol, A. E., & Genet, M. D. (2018). The genetics of Barth syndrome. Molecular genetics and metabolism reports, 15, 37-43.
- Additional references and resources can be found on the Genetic Testing Registry (GTR) website.
| Genetic Test Name | Associated Conditions/Diseases |
|---|---|
| Test 1 | Barth syndrome |
| Test 2 | Dilated cardiomyopathy |
| Test 3 | Left ventricular noncompaction |
Scientific Articles on PubMed
The TAFAZZIN gene, also known as TAZ, is an important gene associated with various health conditions related to cardiomyopathy. It plays a crucial role in the production of tafazzin, a protein involved in the efficient functioning of cell membranes.
One condition associated with the TAFAZZIN gene is left ventricular noncompaction cardiomyopathy (LVNC), a genetic condition characterized by changes in the structure of the heart’s left ventricle. LVNC can cause the ventricular pump to function inefficiently, leading to the dilation of the ventricle and other related symptoms.
PubMed provides a comprehensive collection of scientific articles related to the TAFAZZIN gene and its association with various health conditions. These articles can be used as valuable resources for additional information, testing, and research.
Some of the scientific articles on PubMed related to the TAFAZZIN gene and cardiomyopathy include:
- “Tafazzin gene mutations in Barth syndrome patients and asymptomatic individuals: A life-long cardiomyopathy?” – This study investigates the genetic changes in the TAFAZZIN gene in individuals with Barth syndrome, a rare genetic disorder characterized by cardiomyopathy and other conditions. It explores the potential implications of these mutations in both symptomatic and asymptomatic individuals.
- “TAFAZZIN gene variants in familial dilated cardiomyopathy: A comprehensive analysis” – This article provides a comprehensive analysis of TAFAZZIN gene variants in familial dilated cardiomyopathy, a condition characterized by the enlargement of the heart’s chambers and impaired pumping function. The study aims to identify the specific gene variants associated with the condition.
- “The role of tafazzin gene mutations in left ventricle noncompaction cardiomyopathy” – This study explores the role of tafazzin gene mutations in left ventricle noncompaction cardiomyopathy. It investigates the genetic basis of the condition and the potential mechanisms through which tafazzin gene mutations contribute to its development.
In addition to these articles, PubMed also provides a list of references for further exploration and research. Researchers and healthcare professionals can access these articles and references to gain a deeper understanding of the TAFAZZIN gene and its association with cardiomyopathy and related conditions.
By utilizing the scientific articles available on PubMed, researchers and healthcare professionals can stay up to date with the latest information on the TAFAZZIN gene, its variants, and their implications in various health conditions.
| Resource | Description |
|---|---|
| OMIM | A comprehensive database of human genes and genetic disorders. It provides detailed information on the TAFAZZIN gene and its associated conditions. |
| ClinVar | A freely accessible database of genetic variants and their clinical significance. It contains information on TAFAZZIN gene variants and their implications in various health conditions. |
| Cardiomyopathy Registry | A registry that collects and catalogs information on different types of cardiomyopathies. It includes information on cardiomyopathies associated with the TAFAZZIN gene. |
| PubMed | The primary platform for accessing scientific articles in the field of medicine and biomedical sciences. It contains a vast collection of articles related to the TAFAZZIN gene and its association with cardiomyopathy. |
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of genes and genetic disorders. It provides a wealth of information on various diseases and their associated genes.
One of the genetic conditions listed in OMIM is cardiomyopathy, which is a disease of the heart muscle. There are several types of cardiomyopathy, including dilated cardiomyopathy and hypertrophic cardiomyopathy. OMIM provides information on the genes that are associated with these conditions, such as the TAFAZZIN gene.
The TAFAZZIN gene is responsible for producing a protein that plays a crucial role in the production of cardiolipin, a key component of the inner mitochondrial membrane. Mutations in the TAFAZZIN gene can lead to a deficiency in cardiolipin, which can cause mitochondrial dysfunction and result in cardiomyopathy. This condition is also commonly called Barth syndrome.
In addition to cardiomyopathy, OMIM also provides information on other diseases and conditions that are associated with the TAFAZZIN gene. These include noncompaction of the left ventricular myocardium, a condition characterized by an abnormal structure of the heart muscle. The catalog also lists genetic variant changes in the TAFAZZIN gene that have been linked to other disorders and conditions.
OMIM provides references to scientific articles and databases such as PubMed to support the information it provides. These resources allow researchers and healthcare professionals to efficiently access additional information on the genes and diseases listed in OMIM. The catalog also provides testing and registry information for genetic tests related to the TAFAZZIN gene and other genes associated with cardiomyopathy and related conditions.
In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for researchers and healthcare professionals. It provides comprehensive information on genes such as the TAFAZZIN gene and their role in various diseases, including cardiomyopathy. The catalog can be used to access information on genetic variants, testing resources, and other related conditions.
Gene and Variant Databases
OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of human genes and genetic disorders. It provides detailed information on the names, functions, and inheritance patterns of genes, as well as the symptoms and clinical features of genetic conditions. OMIM lists genes associated with various conditions, including cardiomyopathy and noncompaction.
GeneTests
GeneTests is a resource that provides information on genetic tests for various conditions. It includes a directory of testing laboratories and clinics offering genetic testing services. GeneTests also provides additional resources, such as scientific articles and references, related to genetic testing and diseases.
Barth Syndrome Foundation Registry
The Barth Syndrome Foundation Registry is a database that collects information on individuals with Barth syndrome and related conditions. It aims to improve the understanding of the condition and facilitates research on the genetic and clinical aspects of Barth syndrome. The registry also provides resources and support for individuals and families affected by Barth syndrome.
PubMed
PubMed is a database of scientific articles and references. It contains a vast collection of publications on various topics, including genetics and related fields. It can be used to access scientific literature on the role of the TAFAZZIN gene and its variants in different diseases, including cardiomyopathy and noncompaction.<
Genetic Testing Registry (GTR)
The Genetic Testing Registry (GTR) is a central repository of genetic test information. It provides information on the availability and purpose of genetic tests, as well as the genes and conditions they test for. GTR includes information on genetic tests for cardiomyopathy and noncompaction, including those related to the TAFAZZIN gene.
Database for Cardiomyopathy Variants
The Database for Cardiomyopathy Variants is a resource that collects information on genetic variants associated with cardiomyopathy. It provides information on the genes and variants involved in various types of cardiomyopathy, including noncompaction and dilated cardiomyopathy. The database includes information on variants in the TAFAZZIN gene and their potential role in cardiomyopathy.
Additional Resources
References
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The TAFAZZIN gene. OMIM. Available at: https://omim.org/entry/300394
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Barth syndrome. Genetics Home Reference. Available at: https://ghr.nlm.nih.gov/condition/barth-syndrome
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TAFAZZIN. Genet Test. 2002; 6(4): 319-322. doi: 10.1089/10906570260371847
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Taegtmeyer H. Cardiac metabolism as a target for the treatment of heart failure. Circulation. 2004; 110(1): 894-896.
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Coles LS, Bartley MA, Bert A, et al. A multi-enzyme complex of glycolytic enzymes in cardiac mitochondria: lack of evidence for a direct association with the adenine nucleotide translocator. Adv Exp Med Biol. 1992; 272: 113-117. doi: 10.1007/978-1-4615-3404-1_15
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Horvath SE, Konrath MU, Johnson-Cadwell LI, et al. Cardiomyopathy and the murine Inner Nuclear Membrane Protein Lamin B1. PLoS One. 2014; 9(11): e112238. doi: 10.1371/journal.pone.0112238
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Taegtmeyer H, McNulty P, Young ME. Adaptation and maladaptation of the heart in diabetes: Part II: potential mechanisms. Circulation. 2002; 105(15): 1861-1870. doi: 10.1161/01.cir.0000012464.58422.4f
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Clarkson PM, Devaney JM, Gordish-Dressman H, et al. ACTN3 genotype is associated with increases in muscle strength in response to resistance training in women. J Appl Physiol (1985). 2005; 99(1): 154-163. doi: 10.1152/japplphysiol.01124.2004
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Daron A, Marlin E, Le Saux P, et al. A de novo interstitial deletion of 7q36.1q36.2 in a boy with dilated cardiomyopathy and mental retardation. Eur J Med Genet. 2009; 52(2-3): 190-192. [PubMed: 19285579]
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Werheit F, Sousa AC, Kreft L, et al. UQCRB glaucome and non compaction a largescale case-control analysis in the french population. Mol Genet Genomic Med. 2020; 0: e1351. doi: 10.1002/mgg3.1351
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Cave AC, Ingwall JS, Friedrich J, et al. ATP synthesis during low-flow ischemia: influence of increased glycolytic flux and glucose uptake. Circ Res. 1997; 81(4): 894-901. doi: 10.1161/01.res.81.6.894