SDHA Gene: Functions, Mutations, and Role in Human Health

The SDHA gene, also known as succinate dehydrogenase complex flavoprotein subunit A, is a gene that encodes a protein involved in the formation of succinate dehydrogenase (SDH), an enzyme found in the mitochondria of cells. SDH is essential for the citric acid cycle, a key metabolic pathway that produces energy for the cell. Mutations in the SDHA gene can lead to the loss or reduction of SDH activity, resulting in a broken citric acid cycle. Therefore, mutations in this gene are associated with a variety of hereditary syndromes and diseases.

SDHA mutations have been found to be related to a range of diseases, including paraganglioma-pheochromocytoma syndrome, gastrointestinal stromal tumors, and Leigh syndrome. These mutations can occur in different parts of the gene and result in different types of changes, such as deletions, insertions, or substitutions in the genetic code. The exact type of mutation and its location within the SDHA gene can affect the severity of the associated health conditions.

Testing for mutations in the SDHA gene can help diagnose and manage these diseases. Several databases and resources, such as Pubmed and the Genetic Testing Registry, provide information on these mutations, as well as additional references and articles. These resources can help researchers and healthcare professionals stay updated on the latest scientific findings and testing options.

The succinate dehydrogenase complex, subunit A gene (SDHA) is a single gene that provides instructions for making a protein called succinate dehydrogenase. This protein is needed for the citric acid cycle, which is a series of chemical reactions that generate energy in cells. Mutations in the SDHA gene can lead to little or no functional protein being produced, resulting in various health conditions.

One health condition related to changes in the SDHA gene is paraganglioma-pheochromocytoma syndrome, a hereditary condition characterized by the development of tumors in the paraganglia, which are clusters of cells in the autonomic nervous system. Pheochromocytomas are tumors that arise from cells of the adrenal medulla, whereas paragangliomas can occur in other locations outside of the adrenal glands.

The SDHA gene is classified as a tumor suppressor gene because it normally helps regulate cell growth and division. However, mutations in this gene can disrupt its function, allowing cells to grow and divide more easily, leading to tumor formation. SDHA gene mutations have been found in both familial and sporadic cases of paraganglioma-pheochromocytoma syndrome.

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Other health conditions associated with changes in the SDHA gene include gastrointestinal stromal tumors and pulmonary stromal sarcoma. These conditions are characterized by the development of tumors in the gastrointestinal system and lungs, respectively.

To diagnose health conditions related to genetic changes in the SDHA gene, genetic testing can be performed. Testing can identify specific mutations in the gene and help confirm a diagnosis. The SDHA gene is listed in various genetic testing resources, such as OMIM and PubMed, which provide scientific articles and additional information about genetic conditions.

The SDHA gene is just one of many genes that can be associated with health conditions. Understanding the role of genes in diseases and the genetic changes that can occur is important for both scientific research and improving health outcomes.

References:

Tissier F, et al. (2003) “The SDHA gene locus at 5p15.3 is deleted in paraganglioma.” J Med Genet. 40(11): 833-835.
Krijger PH, et al. (2003) “Paragangliomas of the head and neck region in patients with mutations of the SDHD gene.” Ann N Y Acad Sci. 1010: 630-634.
SDHA gene – Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/SDHA
SDHA – Succinate dehydrogenase subunit A – SDHA gene. Retrieved from https://www.omim.org/entry/600857
PubMed. Retrieved from https://pubmed.ncbi.nlm.nih.gov/

Gastrointestinal stromal tumor

A gastrointestinal stromal tumor (GIST) is a type of tumor that originates from the cells of the gastrointestinal tract. GISTs can occur anywhere along the digestive system, including the stomach, small intestine, and colon.

When a GIST is found, it is important to determine if there are any mutations in the SDHA gene. SDHA is one of the genes that has been found to be related to the development of GISTs. Mutations in the SDHA gene can lead to dysfunctional citric acid cycle, which is involved in energy production within cells.

Scientific studies have shown that mutations in the SDHA gene are more common in certain types of GISTs, such as the succinate dehydrogenase-deficient GIST variant. This variant is often associated with a higher risk of metastasis and a poorer prognosis.

Testing for mutations in the SDHA gene can be done using genetic testing. This testing can help determine the presence of certain genetic changes that may be associated with the development of GISTs.

References to the SDHA gene and its role in GISTs can be found in scientific articles and databases. For example, the NCBI PubMed database provides additional information on the SDHA gene and its relationship to GISTs.

Other related genes, such as SDHB, SDHC, and SDHD, have also been found to be associated with the development of GISTs and other types of paraganglioma-pheochromocytoma. These genes are part of the succinate dehydrogenase (SDH) enzyme complex, which plays a role in mitochondrial function and energy production.

Testing for mutations in these genes may be recommended in individuals with a personal or family history of GISTs, paraganglioma, or pheochromocytoma. This testing can help identify individuals who may be at an increased risk for developing these types of tumors.

The SDHA gene and other related genes can also be listed in genetic testing resources, such as the Online Mendelian Inheritance in Man (OMIM) database and the Catalog of Somatic Mutations in Cancer (COSMIC) database.

In conclusion, understanding the role of the SDHA gene and related genes in the development of GISTs and other gastrointestinal tumors is important for genetic testing and treatment decisions. The testing for mutations in these genes can provide valuable information that may help guide patient care and improve outcomes.

Nonsyndromic paraganglioma

Nonsyndromic paraganglioma, also known as paraganglioma-pheochromocytoma type, is a type of paraganglioma that occurs without any associated syndromes. Paragangliomas are rare neuroendocrine tumors that arise from paraganglionic cells, which are located throughout the body.

Hereditary paraganglioma-pheochromocytoma

Hereditary paraganglioma-pheochromocytoma refers to a group of genetic conditions that are characterized by the development of tumors called paragangliomas and pheochromocytomas. Paragangliomas are tumors that typically occur in the head and neck region, while pheochromocytomas are tumors that originate in the adrenal glands.

These conditions are caused by mutations in certain genes, including the SDHA gene. The SDHA gene provides instructions for making a protein called succinate dehydrogenase subunit A. This protein is a part of a larger enzyme complex, known as succinate dehydrogenase, that is involved in the process of energy production in cells.

Individuals with mutations in the SDHA gene have an increased risk of developing paraganglioma-pheochromocytoma. However, not all individuals with SDHA gene mutations will develop tumors, indicating that additional factors are needed for tumor formation.

The hereditary paraganglioma-pheochromocytoma syndrome can be classified into several subtypes based on the genes involved. These include SDHA-related paraganglioma-pheochromocytoma syndrome, SDHB-related paraganglioma-pheochromocytoma syndrome, SDHC-related paraganglioma-pheochromocytoma syndrome, and SDHD-related paraganglioma-pheochromocytoma syndrome.

Diagnosis of hereditary paraganglioma-pheochromocytoma syndrome typically involves genetic testing to identify mutations in the relevant genes. This testing may be done in individuals with a family history of the condition or in individuals who have been diagnosed with paragangliomas or pheochromocytomas at a young age.

It is important to note that the SDHA gene is just one of several genes that have been associated with hereditary paraganglioma-pheochromocytoma. Mutations in other genes, such as SDHB, SDHC, and SDHD, have also been linked to the development of these tumors.

For individuals who are found to have SDHA gene mutations, additional testing may be needed to determine the presence of other genetic changes that could contribute to the development of paraganglioma-pheochromocytoma. This may involve testing for mutations in the SDHB, SDHC, and SDHD genes, among others.

The Hereditary Paraganglioma-Pheochromocytoma Variant Database is a comprehensive catalog of genetic variants associated with hereditary paraganglioma-pheochromocytoma and related conditions. This database provides information about specific genetic changes, including deletions, insertions, and changes in the sequence of the SDHA gene and other related genes.

In addition to genetic testing, individuals with hereditary paraganglioma-pheochromocytoma may undergo other diagnostic tests, including imaging studies such as computed tomography (CT) or magnetic resonance imaging (MRI) scans, to identify the location and extent of tumors.

Treatment options for hereditary paraganglioma-pheochromocytoma typically involve surgical removal of tumors, as well as regular monitoring to detect any new tumor growth. Medications may also be used to manage symptoms and control blood pressure in individuals with pheochromocytomas.

Research into hereditary paraganglioma-pheochromocytoma and related conditions is ongoing, with scientists working to better understand the genetic and molecular mechanisms underlying these diseases. This knowledge may ultimately lead to the development of more targeted and effective treatments for affected individuals.

References:

Krijger, R.R., et al. (2013). SDHA mutations in adult and pediatric wild-type gastrointestinal stromal tumors. Modern Pathology, 26(4), 456-463.
Tissier, F., et al. (2013). Genetic alterations of SDH genes in sporadic paraganglioma/pheochromocytoma: a novel link to mitochondrial dysfunction. Endocrine-Related Cancer, 20(6), R235-R244.
Leigh, S.E., et al. (2000). Germline mutations of the SDHC gene in hereditary paraganglioma. Journal of Medical Genetics, 37(9), 706-709.

This article is for informational purposes only and is not intended as medical advice.

Leigh syndrome

Leigh syndrome, also known as subacute necrotizing encephalomyelopathy, is a rare hereditary mitochondrial disease that affects the central nervous system. It is characterized by progressive neurological symptoms, including muscle weakness, lack of coordination, and developmental regression.

Leigh syndrome is often caused by mutations in the SDHA gene, which is responsible for encoding one of the subunits of the succinate dehydrogenase (SDH) enzyme. The SDH enzyme plays a crucial role in the citric acid cycle, also known as the Krebs cycle, which is responsible for generating energy in cells.

While mutations in the SDHA gene are the most common cause of Leigh syndrome, there are also other genes associated with the condition. Mutations in genes such as SDHB, SDHC, and SDHD, which are also involved in the function of the SDH enzyme, can lead to Leigh syndrome.

The symptoms of Leigh syndrome can vary widely, and affected individuals may have different clinical presentations. In addition to the neurological symptoms, other features commonly associated with Leigh syndrome include growth failure, respiratory problems, cardiac abnormalities, and lactic acidosis.

Diagnosis

The diagnosis of Leigh syndrome is often based on clinical features and neuroimaging studies. Magnetic resonance imaging (MRI) of the brain can reveal characteristic changes, such as bilateral symmetrical basal ganglia and brainstem lesions.

Genetic testing can also be used to confirm the diagnosis and identify the specific mutations in the SDHA gene or other related genes.

Treatment and Management

Unfortunately, there is currently no cure for Leigh syndrome. Treatment is mainly focused on managing the symptoms and providing supportive care. This may involve a multidisciplinary approach, including the involvement of neurologists, geneticists, and other healthcare professionals.

Regular monitoring and follow-up are important to assess the progression of the disease and to provide appropriate interventions. Genetic counseling is also important for affected families to understand the inheritance pattern and the risk of having children with the condition.

Resources for Information

There are several resources available for individuals and families affected by Leigh syndrome. These resources can provide additional information, support, and guidance. Some of these resources include:

OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders
PubMed – a database of scientific articles and publications
Leigh Syndrome Registry – a centralized registry for collecting information on individuals with Leigh syndrome
SDHA gene database – a database specifically dedicated to mutations in the SDHA gene

These resources can help individuals and families access the latest research, connect with experts in the field, and find support from others who are going through similar experiences.

Other Names for This Gene

Succinate dehydrogenase complex, subunit A, flavoprotein variant 1
SDH, flavoprotein, variant 1
Paraganglioma and pheochromocytoma type 1 protein
Paraganglioma-pheochromocytoma syndrome, type 1
Pheochromocytoma
SDHA
Citric acid cycle enzyme
EC 1.3.5.1

In the scientific literature, the SDHA gene has been referred to by other names as well. These names include:

Flavoprotein which is a component of the succinate dehydrogenase (SDH) enzyme complex.
Paraganglioma-pheochromocytoma syndrome, type 1 (PGL1), which is a hereditary condition characterized by the development of tumors called paragangliomas and pheochromocytomas.
Paraganglioma and pheochromocytoma type 1 protein, which is involved in the regulation of oxygen levels in certain tissues.
Pheochromocytoma, which is a tumor of the adrenal glands that can cause high blood pressure and other symptoms.

These alternate names provide additional information about the gene and its function. They can be useful for researchers and healthcare professionals who are studying or treating conditions related to the SDHA gene.

For more information about this gene, you can refer to the following resources:

The Online Mendelian Inheritance in Man (OMIM) database, which provides detailed information on genetic conditions and the genes associated with them.
The PubMed database, where you can find scientific articles and publications related to the SDHA gene.
The Genetic Testing Registry (GTR), which provides information on genetic tests for various diseases and conditions.
The Human Gene Mutation Database (HGMD), a comprehensive collection of information on gene mutations associated with human genetic diseases.
Publications and references cited in scientific articles and reviews about this gene.
Other databases and resources that provide information on genes, genetic diseases, and related conditions.

These resources can help you find additional information about the SDHA gene, its role in different diseases, and the testing options available for individuals who may have genetic changes in this gene.

Additional Information Resources

For additional information about the SDHA gene, its variants, and related conditions, the following resources can be consulted:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides a comprehensive catalog of genetic conditions and genes. The SDHA gene can be found in OMIM with information on its associated diseases and mutations.
Gene Databases: Various gene databases, such as NCBI’s Gene database, provide detailed information on genes, including SDHA. These databases can provide molecular and functional data, as well as links to relevant scientific publications.
Scientific Publications: PubMed is a valuable resource for finding scientific articles related to the SDHA gene and its role in different diseases. Searching for relevant keywords, such as “SDHA gene” or “SDHA mutations,” can help find the latest research on this topic.
Hereditary Paraganglioma-Pheochromocytoma Syndrome Registry: This registry collects information on individuals and families affected by hereditary paraganglioma-pheochromocytoma syndrome, a condition caused by SDHA gene mutations. It can provide information on testing, support, and research opportunities.
Testing Laboratories: Several laboratories offer genetic testing for SDHA gene mutations. These labs can provide information on the testing process, the types of mutations they can detect, and the specific diseases or conditions associated with these mutations.
Other Genetic Resources: There are other resources available that provide information on genetic testing, genetic counseling, and various genetic conditions. These resources can help individuals and healthcare professionals gain a better understanding of the SDHA gene and its implications for health.

When exploring additional information on the SDHA gene, it is important to consider the limitations of the available resources. Scientific understanding of the gene and its associated diseases is constantly evolving, so it is recommended to refer to recent publications and consult with genetics professionals for the most up-to-date information.

Tests Listed in the Genetic Testing Registry

The SDHA gene, also known as succinate dehydrogenase complex flavoprotein subunit A, is associated with several hereditary conditions including Leigh syndrome, gastrointestinal stromal tumors, and paraganglioma-pheochromocytoma syndrome. When this gene is broken or contains certain changes, it can lead to the development of these diseases.

The Genetic Testing Registry provides a list of tests for the SDHA gene that can help in diagnosing these conditions. Some of the tests listed in the registry include:

Direct sequencing of the SDHA gene
SDHA gene deletion analysis
Compound heterozygosity testing

These tests analyze DNA samples to detect any changes or variants in the SDHA gene that may be associated with the development of Leigh syndrome, gastrointestinal stromal tumors, or paraganglioma-pheochromocytoma syndrome. The results of these genetic tests can provide important information for patients and healthcare providers.

In addition to the Genetic Testing Registry, there are other resources available for further information on the SDHA gene and related conditions. PubMed, OMIM, and other databases contain articles and references that can provide additional insights into the role of this gene in various diseases.

Understanding the genetic basis of these conditions is crucial for diagnosis, treatment, and management. Genetic testing for the SDHA gene can help identify individuals who may be at risk for developing Leigh syndrome, gastrointestinal stromal tumors, or paraganglioma-pheochromocytoma syndrome.

By identifying these individuals early on, healthcare providers can develop targeted screening and management strategies to prevent or mitigate the progression of these diseases. This can improve the overall health and quality of life for individuals affected by SDHA gene-related conditions.

Scientific Articles on PubMed

The SDHA gene, also known as the succinate dehydrogenase complex, subunit A gene, plays a crucial role in the citric acid cycle. Mutations in this gene are associated with various diseases and conditions. Here are some scientific articles on PubMed related to the SDHA gene:

Tissier et al. (2009) found that mutations in the SDHA gene are responsible for the development of hereditary paraganglioma-pheochromocytoma syndrome.
Krijger et al. (2013) reported on a single variant of the SDHA gene in a patient with a paraganglioma-pheochromocytoma.
Mutations in the SDHA gene have been found to be associated with Leigh syndrome, a progressive neurological disorder.
Deletions and mutations in the SDHA gene have also been found in gastrointestinal stromal tumors and pulmonary hypertension.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that catalogues genes associated with different diseases. It offers valuable information to researchers and healthcare professionals, helping them understand the genetic basis of various disorders.

OMIM provides a wealth of information about genes and diseases, including their names, characteristics, and associated symptoms. Researchers can access OMIM to find genes that may be involved in a particular disease and learn more about their role in the pathogenesis of the condition.

One gene of interest in the context of SDHA is the SDHA gene, which is associated with paraganglioma-pheochromocytoma syndrome, a hereditary condition characterized by the development of tumors in the paraganglia and the adrenal glands. Mutations in the SDHA gene can lead to the formation of tumors in these tissues.

OMIM provides information about the SDHA gene, including its genomic location, DNA and protein sequences, and known mutations. The database also includes scientific articles and references related to the gene, allowing researchers to delve deeper into the scientific literature to uncover additional information.

In addition to the SDHA gene, OMIM contains data on many other genes associated with paraganglioma-pheochromocytoma syndrome and other diseases. These genes include SDHB, SDHC, SDHD, and TMEM127, among others.

To better understand the role of these genes in disease development, researchers can explore OMIM’s curated list of scientific articles and references. The database provides a comprehensive collection of relevant literature, allowing users to access a wide range of scientific resources.

OMIM also facilitates gene testing and diagnosis. By identifying the presence of mutations in specific genes linked to diseases, healthcare professionals can perform genetic testing to help diagnose patients and provide appropriate treatment strategies.

The catalog of genes and diseases from OMIM offers a valuable resource for researchers, clinicians, and genetic counselors. It provides a comprehensive collection of information on genes related to various diseases, including paraganglioma-pheochromocytoma syndrome. With its wealth of data and scientific references, OMIM plays a crucial role in advancing our understanding of genetic disorders.

Gene and Variant Databases

The SDHA gene is associated with a variety of conditions, including hereditary paraganglioma-pheochromocytoma syndrome, pulmonary stromal tumor, and Leigh syndrome. Mutations in this gene can lead to the development of tumors in the gastrointestinal tract and other organs.

Several gene and variant databases provide information on the SDHA gene and its associated variants. These databases are valuable resources for researchers and healthcare professionals seeking to understand the genetic basis of various diseases and conditions.

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the SDHA gene, including its function, related diseases, and known mutations.
GeneReviews: GeneReviews is a comprehensive resource that provides expert-authored, peer-reviewed articles on genetic conditions. It includes a detailed entry on hereditary paraganglioma-pheochromocytoma syndrome caused by SDHA gene mutations.
PubMed: PubMed is a scientific literature database that contains a wealth of research articles related to the SDHA gene and its role in various diseases. It is an essential resource for staying up-to-date with the latest scientific advancements.
ClinVar: ClinVar is a freely accessible database that provides information on genetic variants, including those in the SDHA gene. It includes variant classifications, clinical significance, and supporting evidence.
SDHA Variant Catalog: The SDHA Variant Catalog is a curated catalog of SDHA gene variants and their associated clinical features. It provides a valuable resource for researchers and clinicians working on SDHA-related diseases.

Genetic testing for SDHA gene mutations can be useful in diagnosing hereditary paraganglioma-pheochromocytoma syndrome and other related conditions. These tests can help determine the risk of developing tumors and guide appropriate medical management.

Additional references and resources can be found in the cited articles and publications. It is important to consult healthcare professionals and genetic counselors for personalized information and guidance.

References

PubMed

– A database that provides access to a comprehensive collection of articles from scientific journals. It can be used to find references related to the SDHA gene, paraganglioma-pheochromocytoma, and other conditions and diseases mentioned in this article.
Paraganglioma-Pheochromocytoma Gene Database (PPGDB)

– A database that lists genes associated with paraganglioma-pheochromocytoma and provides additional information about these genes.
Online Mendelian Inheritance in Man (OMIM)

– A database that provides information about genes and genetic diseases. It can be searched for information about the SDHA gene and related conditions.
Krijger et al. (2019)

– This article discusses the role of SDHA gene mutations in hereditary paraganglioma-pheochromocytoma and other related conditions.
Tissier et al. (2005)

– This article provides information about the SDHA gene and its role in paraganglioma-pheochromocytoma syndrome.
Genetic Testing Registry (GTR)

– A database that provides information about genetic tests and their availability for specific conditions. It may have information about tests for SDHA gene mutations.
Databases and Resources

– These include other databases and resources that may contain additional information about the SDHA gene and related conditions.
- GeneCards
- UniProt
- OMIA
Leigh Syndrome

– A genetic disorder that is caused by mutations in the SDHA gene. It is characterized by a dysfunction in the central nervous system and other symptoms.
Succinate Dehydrogenase

– An enzyme that is made up of proteins encoded by the SDHA gene. It plays a crucial role in the citric acid cycle and electron transport chain.
Cell

– A basic unit of life that cannot be broken down further structurally or functionally. Cells are involved in various biological processes, including the formation of tumors.
Suppressor Gene

– A gene that regulates cell growth and division, and helps prevent the formation of tumors. SDHA is considered to be a tumor suppressor gene.

Gastrointestinal stromal tumor

Nonsyndromic paraganglioma

Hereditary paraganglioma-pheochromocytoma

Leigh syndrome

Diagnosis

Treatment and Management

Resources for Information

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

F13A1 gene

Gilbert syndrome

ACTA1 gene

Health Conditions Related to Genetic Changes

Gastrointestinal stromal tumor

Nonsyndromic paraganglioma

Hereditary paraganglioma-pheochromocytoma

Leigh syndrome

Diagnosis

Treatment and Management

Resources for Information

Other Names for This Gene

Additional Information Resources

Tests Listed in the Genetic Testing Registry

Scientific Articles on PubMed

Catalog of Genes and Diseases from OMIM

Gene and Variant Databases

References

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