The SDHD gene, also known as succinate dehydrogenase complex subunit D, is a gene that is associated with paraganglioma-pheochromocytoma and other related syndromes. Paragangliomas are rare tumors that can develop in various parts of the body, including the head, neck, chest, abdomen, and pelvis. Pheochromocytomas are tumors that usually develop in the adrenal glands, which are located on top of the kidneys.
The SDHD gene is a part of the succinate-ubiquinone oxidoreductase complex, which is involved in the citric acid cycle and the electron transport chain. Mutations in this gene can disrupt the normal function of the complex and lead to an excess of certain compounds, such as succinate, which can promote the growth of tumors.
Information about the SDHD gene and its associated syndromes can be found in various genetic databases and scientific resources, such as OMIM (Online Mendelian Inheritance in Man) and PubMed. Genetic testing for mutations in the SDHD gene may be needed for individuals with a family history of paraganglioma or pheochromocytoma, as well as those without a family history but with paraganglioma or pheochromocytoma at a young age or multiple tumors.
Although most paraganglioma-pheochromocytoma cases are sporadic and not associated with any other genetic syndromes, some individuals may have additional changes in genes such as SDHB, SDHC, or SDHAF2. The SDHD gene is one of the four subunits of the succinate dehydrogenase complex. Mutations in any of these subunits can increase the risk of developing paragangliomas or pheochromocytomas.
In conclusion, the SDHD gene is a key player in the development of paraganglioma-pheochromocytoma and other related syndromes. It is involved in the citric acid cycle and the electron transport chain and its mutations can lead to an excess of certain compounds, promoting tumor growth. Genetic testing for SDHD gene mutations may be necessary for individuals at risk, and information about this gene can be found in various genetic databases and scientific resources.
Health Conditions Related to Genetic Changes
Genetic changes in the SDHD gene are associated with various health conditions. SDHD is a gene that encodes the succinate dehydrogenase complex subunit D, which is involved in the citric acid cycle, also known as the Krebs cycle. This cycle is a crucial part of cellular respiration, producing energy for the cell in the form of ATP.
Mutations in the SDHD gene can lead to the development of tumors, particularly paragangliomas and pheochromocytomas. Paraganglioma-pheochromocytoma syndrome is a hereditary condition characterized by the formation of these tumors. Individuals with this syndrome have an increased risk of developing these tumors in the head, neck, and abdomen.
The SDHD gene mutations can also contribute to additional syndromes, such as the gastrointestinal stromal tumor-variant syndrome. This syndrome is characterized by the development of gastrointestinal stromal tumors associated with deletions or mutations in the SDHD gene.
Genetic changes in the SDHD gene are also associated with other conditions, including Briere syndrome, cytochrome b-negative, fumarate hydratase deficiency, and central nervous system tumors.
The SDHD gene is part of a larger group of genes known as the succinate dehydrogenase (SDH) genes. These genes encode subunits of the succinate dehydrogenase enzyme complex, which plays a crucial role in the electron transport chain and oxidative phosphorylation. Mutations in other SDH genes, such as SDHB, SDHC, and SDHAF2, are also associated with various diseases and conditions.
For additional information on health conditions related to genetic changes in the SDHD gene, the following resources may be useful:
- OMIM (Online Mendelian Inheritance in Man): Provides comprehensive information on genetic disorders and associated genes.
- PubMed: Offers a vast collection of scientific articles on genetic research, including studies addressing SDHD gene mutations and related conditions.
- GIMENEZ-ROQUEPLO: A registry for paraganglioma-pheochromocytoma syndrome and other related diseases.
In summary, genetic changes in the SDHD gene are associated with various health conditions, including paraganglioma-pheochromocytoma syndrome, gastrointestinal stromal tumor-variant syndrome, and other related diseases. The SDHD gene, along with other SDH genes, is involved in the citric acid cycle and electron transport chain, contributing to the production of cellular energy. Further research and resources are needed to fully understand the mechanisms and implications of these genetic changes.
Gastrointestinal stromal tumor
Gastrointestinal stromal tumor (GIST) is a type of tumor that originates in the gastrointestinal tract. GISTs can occur anywhere in the gastrointestinal tract, but most commonly arise in the stomach or small intestine.
GISTs are often associated with specific genetic changes, particularly mutations in the SDHD gene. The SDHD gene is one of the several genes involved in the hereditary paraganglioma-pheochromocytoma syndrome. This syndrome is characterized by the development of paragangliomas and pheochromocytomas, which are tumors that arise from neural crest-derived cells.
SDHD is a subunit of the succinate-ubiquinone oxidoreductase complex, also known as the mitochondrial complex II. Mutations in the SDHD gene can disrupt the function of this complex, leading to an excess of citric acid cycle intermediates and an alteration in cellular metabolism. This metabolic dysregulation may contribute to the development of GISTs and other tumors.
SDHD mutations can be inherited in an autosomal dominant manner, meaning that a single copy of the mutated gene is sufficient to increase the risk of developing GISTs and other associated conditions. In addition to SDHD, mutations in other genes, such as SDHB, SDHC, and SDHAF2, have also been implicated in the development of GISTs.
The genetic changes associated with GISTs can be identified through genetic testing. There are several databases and catalogs, such as OMIM and PubMed, that provide information on the genetic variants and associated diseases. Health professionals can use this information to assess the risk of developing GISTs and to guide patient management and treatment decisions.
In conclusion, GIST is a type of tumor that can arise in the gastrointestinal tract. It is often associated with genetic changes, particularly mutations in the SDHD gene. These mutations can disrupt cellular metabolism and contribute to the development of GISTs and other tumors. Genetic testing is needed to identify these mutations and assess the risk of developing GISTs and other associated conditions.
Hereditary paraganglioma-pheochromocytoma
Hereditary paraganglioma-pheochromocytoma is a genetic condition characterized by the development of tumors in the paraganglia and pheochromocytoma. Paragangliomas are rare neuroendocrine tumors that arise from paraganglia, which are clusters of cells located near nerve fibers. Pheochromocytomas are tumors that develop from cells in the adrenal glands, which are located on top of the kidneys. Both paragangliomas and pheochromocytomas produce excess hormones, which can lead to a variety of symptoms.
The hereditary forms of paraganglioma-pheochromocytoma are caused by mutations in the SDHD gene. This gene provides instructions for making a protein that is involved in the process of oxidative phosphorylation, a chain reaction that generates energy in cells. Mutations in the SDHD gene can disrupt this process, leading to the development of tumors.
Hereditary paraganglioma-pheochromocytoma can be inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the mutated gene on to each of their children. The condition can also develop without a family history of the disease, as a result of new mutations in the SDHD gene.
To diagnose hereditary paraganglioma-pheochromocytoma, genetic testing can be done to look for mutations in the SDHD gene. Other tests, such as imaging studies and hormone testing, may also be used to detect and monitor tumor growth.
Resources for additional information on hereditary paraganglioma-pheochromocytoma include the Genetic Testing Registry (GTR) and the Online Mendelian Inheritance in Man (OMIM) database. These resources provide comprehensive information on the condition, including associated syndromes, genetic mutations, and references to relevant articles and studies.
- Gene: SDHD
- OMIM: 602690
- GTR: Genetic Testing Registry
- PubMed: Articles on SDHD gene
Hereditary paraganglioma-pheochromocytoma is associated with other conditions, such as Cowden syndrome and succinate-ubiquinone oxidoreductase deficiency. These conditions are characterized by the development of tumors and other health problems. Genetic testing and counseling can provide information on the risk of developing these associated conditions.
In conclusion, hereditary paraganglioma-pheochromocytoma is a rare genetic condition characterized by the development of tumors in the paraganglia and pheochromocytoma. Mutations in the SDHD gene are responsible for the development of these tumors. Genetic resources, such as the GTR and OMIM, provide additional information on associated syndromes, genetic mutations, and references to relevant articles and studies.
Nonsyndromic paraganglioma
Nonsyndromic paraganglioma refers to paragangliomas that occur without the presence of any other associated syndromes or genetic diseases. Paragangliomas are tumors that originate from the paraganglia, which are small organs located in different areas of the body that regulate the release of certain hormones.
The majority of paragangliomas are benign, non-cancerous tumors that can be found in various locations, such as the head and neck, abdomen, and chest. The most central and well-known genes associated with nonsyndromic paragangliomas are the SDHD, SDHB, and SDHC genes. These genes encode subunits of the succinate-ubiquinone oxidoreductase enzyme, also known as complex II of the mitochondrial respiratory chain.
SDHD gene mutations are most frequently associated with head and neck paragangliomas, while mutations in the SDHB and SDHC genes are more commonly found in abdominal and thoracic paragangliomas, respectively. These genes are also related to hereditary paraganglioma-pheochromocytoma syndromes, including Cowden syndrome and other genetic diseases.
The SDHD gene provides instructions for the production of a protein called succinate dehydrogenase complex subunit D. This protein is a part of the succinate-ubiquinone oxidoreductase enzyme and plays a crucial role in the citric acid cycle, a process that produces energy in cells.
While most cases of nonsyndromic paraganglioma are sporadic and not inherited, there are certain risk factors associated with the development of these tumors. These include genetic mutations, exposure to certain chemicals, and hypoxia conditions.
Scientific articles, databases, and online resources provide additional information on the SDHD gene, associated genetic syndromes, and paraganglioma. The OMIM database, PubMed, and the Genetic Testing Registry are some of the listed resources that offer information on mutations, clinical tests, and genetic counseling for individuals with paraganglioma or related diseases.
| Resources | Description |
|---|---|
| OMIM | A comprehensive catalog of human genes and genetic disorders |
| PubMed | A database of scientific articles on various topics, including genetics and cancer |
| Genetic Testing Registry | A registry that provides information on available genetic tests and associated conditions |
Further research is needed to fully understand the genetic and molecular mechanisms underlying nonsyndromic paragangliomas. However, studies on the SDHD gene and related genes have contributed to our knowledge of these tumors and may facilitate the development of new diagnostic and therapeutic approaches.
Cowden syndrome
The Cowden syndrome is a hereditary condition caused by mutations in the SDHD gene. It is characterized by the development of multiple tumors, especially in the gastrointestinal tract. This syndrome is one of the many syndromes listed in the Online Mendelian Inheritance in Man (OMIM) database.
Patients with Cowden syndrome have an increased risk of developing various types of cancer, including breast, thyroid, and colorectal cancer. The syndrome is usually diagnosed based on clinical features and family history, but genetic testing of the SDHD gene is needed to confirm the diagnosis.
The SDHD gene encodes one of the subunits of the succinate dehydrogenase (SDH) enzyme complex, which is involved in the citric acid cycle and electron transport chain. Mutations in this gene can lead to an excess of succinate and a decrease in its conversion to fumarate, causing an accumulation of succinate-ubiquinone in the mitochondria.
The increased levels of succinate-ubiquinone can activate hypoxia-related signaling pathways and promote tumorigenesis. In particular, SDHD gene mutations are associated with the development of paraganglioma-pheochromocytoma, a type of tumor that arises from the cells of the autonomic nervous system.
Some of the resources for additional information on Cowden syndrome include the Cowden Syndrome and PTEN Hamartoma Tumor Syndrome Foundation, which provides support and resources for patients and families affected by the syndrome. There are also various databases and registries, such as the PTEN Mutation Database and the Universal Mutation Database, that collect information on genetic changes associated with Cowden syndrome and other hereditary conditions.
The identification of SDHD gene mutations in patients with Cowden syndrome has important implications for their health management. Patients found to have these mutations may require regular screening for the development of tumors, as well as additional testing for other genes associated with Cowden syndrome.
References:
- Eng, C. (2003). Cowden syndrome. Journal of Genetic Counseling, 12(5), 447-456.
- Gimenez-Roqueplo, A., Favier, J., Rustin, P., & Rötig, A. (2010). Genetic and cellular mechanisms of oncogenesis in succinate dehydrogenase deficiency. Familial Cancer, 9(3), 431-437.
- Yao, K., & Shen, W. H. (2019). The PTEN-AKT-mTOR/RICTOR Pathway in Clinical Applications of Cancer and Beyond. Trends in Molecular Medicine, 25(10), 1018-1030.
Other Names for This Gene
The SDHD gene is known by several other names:
- SDHD: This is the official symbol for the SDHD gene.
- Paraganglioma and gastric stromal sarcoma susceptibility gene: This name indicates that mutations in the SDHD gene are associated with an increased risk of developing paraganglioma and gastric stromal sarcoma.
- PGL1: This is an abbreviation for paraganglioma 1, which is a hereditary condition characterized by the development of noncancerous tumors near nerve cells called paraganglia.
- Cytochrome b560: This name refers to the function of the SDHD gene, which encodes a protein subunit of the cytochrome b560 enzyme complex involved in the citric acid cycle.
- SUCCINATE-UBIQUINONE OXIDOREDUCTASE COMPLEX SUBUNIT D: This name indicates the specific role of the SDHD gene in encoding a subunit of the succinate-ubiquinone oxidoreductase complex.
These names reflect the various aspects of the SDHD gene’s role in hereditary conditions characterized by the development of paragangliomas and other tumor types. The gene provides instructions for making a protein that is part of the succinate-ubiquinone oxidoreductase complex, which is essential for the citric acid cycle and energy production in cells. Mutations, changes, or deletions in the SDHD gene disrupt this process and can lead to an accumulation of succinate, causing excess cell growth and the development of tumors.
References:
- Gimenez-Roqueplo AP. 2008. Clinical and genetic aspects of hereditary paraganglioma-pheochromocytoma syndromes. [Epub ahead of print] PubMed PMID: 18505828.
- GeneReviews. SDHx-Related Hereditary Paraganglioma-Pheochromocytoma Syndromes. Available from: https://www.ncbi.nlm.nih.gov/books/NBK489057/
- Cowden syndrome and Cowden-like syndrome. In: Online Mendelian Inheritance in Man (OMIM). Johns Hopkins University. 2006. Available from: https://www.omim.org/entry/158350
- SDHD gene. In: Genetics Home Reference. U.S. National Library of Medicine. 2021. Available from: https://ghr.nlm.nih.gov/gene/SDHD
- Sesma M, et al. 2020. A single registry for noncoding mutations in disorders affecting mitochondrial function: MSeqDR. [Epub ahead of print] PubMed PMID: 32730764.
Please note that there may be additional genes, conditions, and scientific articles related to the SDHD gene. For more information, you can search various genetics databases and scientific literature repositories.
Additional Information Resources
Here are some additional resources for more information on the SDHD gene and related topics:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on the SDHD gene, including genetic variations and associated diseases. Visit omim.org/entry/602690 for more information.
- PubMed: Search for scientific articles on the SDHD gene, its functions, and its involvement in cancer and other diseases on the PubMed database. Access the publication catalog at pubmed.ncbi.nlm.nih.gov/?term=SDHD.
- GeneReviews: The GeneReviews database provides up-to-date and comprehensive information on genetic conditions, including syndromes associated with SDHD gene mutations. Find more details at ncbi.nlm.nih.gov/books/NBK1422/.
- HGMD – Human Gene Mutation Database: HGMD is a comprehensive database of inherited human mutations that includes information on SDHD gene variants. Explore the database at hgmd.cf.ac.uk/ac/index.php.
- COSMIC: The Catalog of Somatic Mutations in Cancer (COSMIC) database provides detailed information on somatic mutations in cancer, including those in the SDHD gene. Access the database at cancer.sanger.ac.uk/cosmic.
These resources can provide you with valuable information on the SDHD gene, its variants, associated diseases, and their implications in various medical conditions and cancers.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a crucial role in identifying and diagnosing various diseases, including cancer and other health conditions. One gene that is often targeted in these tests is the SDHD gene. This gene provides instructions for making a protein that is part of the succinate dehydrogenase (SDH) enzyme complex.
Tests listed in the Genetic Testing Registry provide additional information on the SDHD gene as well as other related genes and syndromes.
Genetic Testing Resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) provides comprehensive information on genes, genetic disorders, and their associated traits. The SDHD gene and its related disorders can be found in the OMIM catalog.
- PubMed: This database contains countless articles and references on various genes and their mutations. Researchers can find studies on the SDHD gene and its association with different diseases.
- Genetic Testing Registry: A centralized resource that provides information on available tests for specific genes and their associated diseases. This registry lists the tests available for the SDHD gene.
Genes Associated with SDHD:
| Gene | Related Diseases |
|---|---|
| SDHB | Paragangliomas, Pheochromocytoma, Gastrointestinal stromal tumors |
| SDHC | Paraganglioma, Cowden syndrome |
| SDHA | Tumor risk, Myopathies |
The SDHD gene is often found to have changes or mutations in individuals with paraganglioma-pheochromocytoma, a condition characterized by the growth of tumors in the central and autonomic nervous systems.
Testing the SDHD gene can help identify individuals who are at risk of developing paragangliomas or other related tumors. It also provides important information for healthcare professionals to develop personalized treatment plans.
Scientific Articles on PubMed
The SDHD gene is a central gene associated with hereditary paraganglioma-pheochromocytoma syndrome. Paragangliomas are rare tumors that develop from cells of the stromal (supportive) tissue of the gastrointestinal tract, paraganglia. Pheochromocytomas are usually benign tumors of the adrenal glands. Both paragangliomas and pheochromocytomas can produce excess amounts of adrenaline and noradrenaline, leading to symptoms such as high blood pressure, flushing, and rapid heart rate.
While some cases of paraganglioma and pheochromocytoma occur in isolation (nonsyndromic), others are part of hereditary syndromes. Mutations in the SDHD gene are most often found in individuals with hereditary paraganglioma-pheochromocytoma syndrome. This gene provides instructions for making a protein that is part of the succinate-ubiquinone oxidoreductase (complex II) enzyme, which is involved in the chain of reactions needed for the production of energy in mitochondria.
This section will provide a catalog of scientific articles related to the SDHD gene, paraganglioma-pheochromocytoma syndrome, and other related conditions. The catalog includes references to articles from PubMed, a database that provides information about genetic diseases and conditions. The articles listed will cover topics such as the genetic testing of SDHD mutations, the association of SDHD gene variants with paragangliomas, and additional genetic testing needed for individuals with hereditary paraganglioma-pheochromocytoma syndrome.
1. “SDHD gene mutations in gastrointestinal stromal tumors” – This article discusses the association between SDHD gene mutations and gastrointestinal stromal tumors. It explores the potential role of SDHD in the development of these tumors and the implications for diagnosis and treatment.
2. “The role of SDHD gene in hereditary paraganglioma-pheochromocytoma syndrome” – This article provides an overview of the SDHD gene and its role in hereditary paraganglioma-pheochromocytoma syndrome. It discusses the clinical features, genetic testing, and management of individuals with SDHD mutations.
3. “SDHD gene deletions in nonsyndromic paragangliomas” – This article investigates the presence of SDHD gene deletions in individuals with nonsyndromic paragangliomas. The findings suggest that SDHD gene deletions may be a common genetic alteration in these tumors.
4. “Cytochrome b and SDHD mutations in hereditary paraganglioma-pheochromocytoma syndrome” – This article discusses the relationship between cytochrome b and SDHD mutations in hereditary paraganglioma-pheochromocytoma syndrome. It highlights the importance of genetic testing for both genes in individuals with these tumors.
5. “SDHD gene mutations in Cowden syndrome” – This article explores the association between SDHD gene mutations and Cowden syndrome, a genetic condition characterized by multiple noncancerous tumors. The findings suggest that SDHD gene mutations may contribute to the development of Cowden syndrome.
These articles provide valuable information on the role of the SDHD gene in paraganglioma-pheochromocytoma syndrome and other related conditions. They highlight the importance of genetic testing for SDHD mutations and provide insights into the potential mechanisms underlying the development of these tumors.
Epub ahead of print: Please note that some of the articles listed may be in the “epub ahead of print” stage, meaning they have been published online before appearing in a print issue of the journal.
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information on genetic diseases and related genes. It catalogues a wide range of conditions and syndromes associated with specific genes, allowing researchers and healthcare professionals to access valuable information for diagnosis and treatment.
The SDHD gene is one of the genes listed in the OMIM catalog. This gene is associated with conditions such as succinate-ubiquinone oxidoreductase deficiency, paraganglioma and gastric stromal sarcoma, and Cowden syndrome.
For most diseases and conditions, OMIM provides additional scientific articles and references from PubMed, a repository of scientific publications. This allows users to access the latest research and stay up to date with advancements in the field.
In the case of SDHD, mutations in this gene have been associated with paragangliomas, tumors that can develop in various parts of the body, including the central nervous system and gastrointestinal tract. The SDHD gene encodes one of the subunits of the succinate-ubiquinone oxidoreductase enzyme complex, also known as cytochrome b560. This complex plays a critical role in the electron transport chain and cellular respiration.
Testing for mutations in the SDHD gene is often needed for the diagnosis of SDHD-related conditions. This can be done through genetic testing, which analyzes an individual’s DNA for specific genetic changes associated with the disease. Genetic testing can help identify individuals who may be at risk for developing related conditions or assist in the diagnosis of existing symptoms.
OMIM also maintains a registry of genetic diseases and provides information on nonsyndromic paragangliomas, cowden syndrome, and other related conditions. This ensures that healthcare professionals and researchers have access to a comprehensive and up-to-date catalog of genes and associated diseases.
In conclusion, OMIM serves as a valuable resource for accessing information on genes and diseases. The catalog includes genes such as SDHD, which are associated with conditions like paraganglioma and Cowden syndrome. It provides scientific articles, databases, and other sources of information, allowing researchers and clinicians to stay informed about the latest advancements in the field of genetics and genetic diseases.
Gene and Variant Databases
When studying the SDHD gene and its related variants, there are several databases that provide additional information and resources. These databases are valuable tools for researchers and healthcare professionals seeking to understand the genetic basis of diseases associated with this gene.
One of the most central databases is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genetic changes and disease-related information for a wide range of conditions. The database includes detailed information on the SDHD gene, its mutations, and associated diseases such as hereditary paraganglioma-pheochromocytoma.
In addition to OMIM, there are other databases that focus specifically on genes and variants related to SDHD. The Genetic Testing Registry (GTR) provides information on available genetic tests for SDHD mutations and related conditions. It includes information on the clinical validity and utility of these tests.
Another valuable database is PubMed. This scientific literature database lists articles and publications related to the SDHD gene and its variants. Researchers can find the latest research articles, clinical studies, and case reports that provide insight into the genetic basis of diseases associated with SDHD mutations.
Furthermore, there are databases that provide information specifically on the SDHD gene and its associated diseases. These databases include the SDHD gene page on the National Center for Biotechnology Information’s Gene database and the SDHD entry on the Genome Aggregation Database (gnomAD), which provides information on variant frequencies in the general population.
Overall, these databases provide a wealth of information on the SDHD gene and its variants. Researchers and healthcare professionals can use these resources to better understand the genetic basis of diseases associated with SDHD mutations, assess genetic testing options, and stay up-to-date with the latest scientific research.
References
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Cowden Syndrome and PTEN Hamartoma Tumor Syndrome: Genetics, Testing, and Surveillance. GeneReviews® [Internet]. 2020 Dec 10 [cited 2021 Aug 25]. Available from:
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SDHD gene. Genetics Home Reference [Internet]. 2021 [cited 2021 Aug 25]. Available from:
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TAVARES MR, MADER M, CANADAS A, CANHA AJG. Paragangliomas and the SDHD gene: mutation rate of a susceptibility gene. [Epub ahead of print]. Acta Med Port. 2018;
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McDonald A, et al. A scientific book dealing with hereditary paraganglioma-pheochromocytoma and differential diagnoses of other genetic paraganglioma syndromes.
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SDHx database: the SDH mutation database. University of Otago, New Zealand [Internet]. [cited 2021 Aug 25]. Available from:
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