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The HADHA gene is responsible for encoding the alpha subunit of the mitochondrial trifunctional protein (MTP), which is involved in the oxidation of long-chain fatty acids. Such oxidation is a critical process for maintaining energy levels in cells. The HADHA gene, along with the HADHB gene, which encodes the beta subunit of the MTP, plays a crucial role in mitochondrial function and the metabolism of fats.

Deficiency in the HADHA gene can lead to severe health disorders, such as mitochondria-related diseases and abnormal enzyme activities. It has been identified as the cause of mitochondrial trifunctional protein deficiency, a rare genetic disorder characterized by the inability to break down long-chain fatty acids. These abnormalities can disrupt normal energy production and lead to a variety of symptoms and complications.

Researchers and scientists have conducted extensive studies and testing on HADHA gene mutations and their implications for health. Scientific databases and resources such as PubMed and genetic registries provide articles, references, and information on these genetic changes. By understanding the molecular structure and functions of the HADHA gene and its related subunits, researchers aim to develop diagnostic tests and screening methods for identifying and managing mitochondrial trifunctional protein deficiency and related disorders.

The HADHA gene plays a critical role in various biological functions. It encodes for the alpha subunit of the mitochondrial trifunctional protein (MTP). This enzyme functions in the breakdown of long-chain fatty acids for energy production.

Genetic mutations in the HADHA gene and other related genes can lead to abnormal protein structure or reduced enzyme activities. These changes can result in a group of disorders known as mitochondrial trifunctional protein deficiency (OMIM 609015).

Individuals with mutations in the HADHA gene may present with three distinct conditions:

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  1. Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase (LCHAD) deficiency: This condition is characterized by the inability to break down long-chain fatty acids, leading to a buildup of harmful substances in the body. LCHAD deficiency can cause severe symptoms, including heart problems, liver dysfunction, and muscle weakness.
  2. Trifunctional protein deficiency: This condition affects the structure and function of the mitochondrial trifunctional protein. It leads to impaired energy production and can cause symptoms such as muscle weakness, heart abnormalities, and liver dysfunction.
  3. Long-chain 3-ketoacyl-coenzyme A thiolase deficiency: This disorder disrupts the breakdown of long-chain fatty acids and can result in muscle weakness, low blood sugar levels, and other metabolic abnormalities.

Genetic screening tests can be conducted to identify mutations in the HADHA gene and other maternal genes associated with these conditions. Identifying these changes can lead to early detection and intervention, improving the prognosis for affected individuals.

Additional information on the symptoms, molecular features, and inheritance patterns of these diseases can be found in the OMIM catalog (OMIM 609015).

Researchers are also continually uncovering new information about the functions and genetic changes in the HADHA gene. Articles and references in PubMed and other resources can provide further insight into the role of this gene in health and disease.

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is a disorder that affects the breakdown of fats for energy. It is caused by mutations in the HADHA gene which provides instructions for making one of the subunits of the long-chain 3-hydroxyacyl-CoA dehydrogenase enzyme.

This enzyme is responsible for the oxidation of long-chain fatty acids, which are a major source of energy for the body. However, mutations in the HADHA gene disrupt the function of the enzyme, leading to a partial or complete loss of enzyme activity.

Individuals with long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency may experience a wide range of symptoms and features that can vary in severity. Common symptoms include low blood sugar (hypoglycemia), muscle weakness and pain, and rhabdomyolysis (the breakdown of muscle tissue). Other features may include liver abnormalities, heart problems, and developmental delays.

Diagnosis of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency is typically confirmed through genetic testing, which can identify mutations in the HADHA gene. Additional testing may also include biochemical tests to measure enzyme activity, as well as urine tests to detect the presence of certain organic acids.

Treatment for long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency focuses on managing symptoms and preventing complications. This may involve a special diet low in long-chain fats and high in carbohydrates, as well as the supplementation of specific nutrients. Regular monitoring and follow-up care is also important to manage the condition effectively.

For more information about long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency, you can visit the following resources:

  • PubMed – a database of scientific articles
  • OMIM – a comprehensive registry of human genes and genetic disorders
  • Genetics Home Reference – a resource for consumer health information on genetic conditions and genes

Researchers continue to study the HADHA gene and its role in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. By understanding the molecular changes caused by mutations in this gene, they hope to develop better diagnostic tests and potentially new treatments for this disorder.

See also  SERPINA6 gene

Mitochondrial trifunctional protein deficiency

Mitochondrial trifunctional protein deficiency is a disorder that impairs the oxidation of fats. It is caused by mutations in the HADHA gene, which encodes the alpha subunit of the mitochondrial trifunctional protein. This protein consists of two subunits, alpha and beta, and has three enzymatic activities: long-chain 3-hydroxyacyl-CoA dehydrogenase, long-chain enoyl-CoA hydratase, and long-chain thiolase. The HADHA gene provides instructions for making the alpha subunit of this protein.

Patients with mitochondrial trifunctional protein deficiency may have abnormalities in any one or all three of these enzymatic functions. These abnormalities lead to the buildup of fatty acids that are too long or too short in the mitochondria, resulting in the accumulation of toxic byproducts that can damage tissues and organs.

The signs and symptoms of mitochondrial trifunctional protein deficiency can vary widely. Some affected individuals have a severe form of the disorder, characterized by infantile-onset cardiomyopathy, muscle weakness, liver problems, and episodes of metabolic crisis. Others have a milder form that presents later in childhood or adulthood and predominantly affects muscle function.

Diagnosis of mitochondrial trifunctional protein deficiency is based on clinical features, biochemical testing, and genetic analysis. Biochemical testing can reveal elevated levels of specific fatty acids and other metabolites in the blood or urine. Genetic analysis can identify mutations in the HADHA gene.

There is currently no cure for mitochondrial trifunctional protein deficiency. Treatment focuses on managing and relieving the signs and symptoms. This may include dietary restrictions to avoid foods that are high in fats, supplementation with medium-chain triglycerides, and medications to manage symptoms and prevent complications.

Research into mitochondrial trifunctional protein deficiency and other related disorders is ongoing. The Genetic and Rare Diseases Information Center (GARD) provides resources for patients and families, including a list of genes associated with mitochondrial disorders and information on clinical trials, research articles, and additional references.

References:

Other disorders

In addition to HADHA gene mutations causing Trifunctional Protein Deficiency, there are other disorders related to abnormal enzyme function. These disorders are also associated with mutations in genes encoding enzymes involved in the oxidation of long-chain fatty acids. The information about these disorders can be found in scientific articles and databases such as PubMed, OMIM, and the Mitochondrial Disease Registry.

One of the related disorders is called Acyl-CoA Dehydrogenase, Long-Chain Deficiency. This disorder is caused by mutations in the ACADL gene, which encodes the long-chain 3-hydroxyacyl-CoA dehydrogenase enzyme. It is characterized by the inability to break down long-chain fats for energy.

Another related disorder is called 3-Hydroxyacyl-CoA Dehydrogenase Deficiency. This disorder is caused by mutations in the HADH gene, which encodes the 3-hydroxyacyl-CoA dehydrogenase enzyme. It is characterized by the inability to break down certain fatty acids and can lead to metabolic abnormalities.

Other disorders related to the HADHA gene may also exist but have not been thoroughly studied or characterized yet. Additional research and screening methods are needed to identify these disorders and their specific genetic mutations. The complex nature of mitochondrial function and the high number of genes involved in fatty acid oxidation make it challenging to fully understand all the related diseases.

Resources such as PubMed, OMIM, and the Mitochondrial Disease Registry provide valuable information and references for further exploration of related disorders and genes.

Other Names for This Gene

The HADHA gene is also known by other names:

  • Trifunctional protein subunit alpha, mitochondrial
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (mitochondrial)
  • Long-chain 3-hydroxyacyl-CoA dehydrogenase (HADH)
  • Long-chain beta-hydroxya Acyl-CoA dehydrogenase (HADH)
  • HADHA mitochondrial trifunctional protein
  • Beta ketothiolase

These additional names reflect different aspects and functions of the HADHA gene and its related proteins and enzymes. The names provide a better understanding of the various activities and disorders associated with this gene.

The HADHA gene plays a crucial role in the oxidation of long-chain fatty acids within mitochondria. It encodes the alpha subunit of the mitochondrial trifunctional protein, which is involved in the breakdown of long-chain fatty acids. Mutations or variant forms of this gene can lead to HADHA deficiency, a rare disorder characterized by abnormal fatty acid oxidation and related metabolic conditions.

Research on the HADHA gene and related genes is ongoing, and scientists are working to gather more information about its structure, molecular functions, and genetic variations. Various scientific articles, PubMed articles, and resources like OMIM and other genetic databases provide valuable information on this gene and its associated diseases and features.

Genetic testing and screening are available for HADHA and related genes to identify potential abnormalities or variants that may be linked to metabolic disorders. The findings from these tests can help in the diagnosis, management, and treatment of individuals with HADHA deficiency or related conditions.

Researchers and health professionals studying the HADHA gene also conduct studies and clinical trials to explore potential treatments, therapies, and preventive measures for HADHA deficiency and other disorders related to long-chain fatty acid oxidation.

Maternal health and the maternal transmission of HADHA gene abnormalities are also areas of interest for researchers and clinicians, as they play a role in the development and progression of HADHA deficiency in neonatal and pediatric patients.

See also  KRT3 gene

The names listed above provide additional information and resources for researchers, clinicians, and individuals seeking to learn more about the HADHA gene, its associated disorders, and related features.

Additional Information Resources

For more information about the HADHA gene and related disorders, you can explore the following resources:

  • OMIM (Online Mendelian Inheritance in Man) – An online database that provides comprehensive information about the genetic basis of human diseases, including HADHA gene mutations and associated disorders. You can access the HADHA gene entry by searching for “HADHA” or “HADHA gene” on the OMIM website.
  • PubMed – A scientific database that contains a vast collection of biomedical literature. You can search for research articles, case studies, and reviews related to HADHA gene mutations, mitochondrial disorders, and other relevant topics.
  • Genetic Testing Databases – Several genetic testing databases offer screening and testing services for HADHA gene mutations and related disorders. These databases can provide valuable information about the prevalence of genetic changes, testing methods, and available treatments. Examples of such databases include GeneTests and ClinVar.
  • Scientific Journals – Scientific journals often publish research articles and studies that focus on HADHA gene mutations and associated disorders. Some well-known journals in this field include Molecular Genetics and Metabolism, Journal of Inherited Metabolic Disease, and Human Molecular Genetics.

By exploring these resources, you can gain a better understanding of the molecular and genetic aspects of HADHA gene mutations, their impact on long-chain fatty acid oxidation, and the associated health disorders. Additionally, you can find more information about the testing methods, maternal screening, and other diagnostic approaches for identifying HADHA gene mutations and related disorders.

It is important to note that while HADHA gene mutations are a known cause of the disorder, there are other genes and factors that can contribute to similar disorders. Therefore, it’s essential to consult with healthcare professionals or genetics specialists for accurate diagnosis and comprehensive management of HADHA gene-related disorders.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides a comprehensive catalog of genetic tests for a wide range of disorders. These tests are designed to detect mutations or variants in specific genes, including the HADHA gene associated with HADHA-related disorders. Here are some of the tests listed in the GTR related to the HADHA gene:

  • Maternal screening for HADHA-related disorders

    • This test is used to identify mutations or variants in the HADHA gene that may increase the risk of HADHA-related disorders in newborns. The test analyzes DNA samples from expectant mothers to provide information on the likelihood of their offspring developing these disorders.

  • Molecular testing for HADHA gene mutations

    • This test focuses on detecting specific mutations in the HADHA gene that are associated with HADHA-related disorders. It involves analyzing the DNA sequence of the gene to identify any changes that may disrupt its normal structure and function.

  • Genetic testing for mitochondrial trifunctional protein deficiency

    • This test aims to identify mutations or variants in both the HADHA and HADHB genes, which encode the subunits of the mitochondrial trifunctional protein. Mutations in either of these genes can result in impaired function of the protein and lead to mitochondrial trifunctional protein deficiency.

  • Neonatal screening for beta-oxidation disorders

    • This screening includes testing for disorders caused by mutations in genes involved in long-chain fatty acid metabolism, such as the HADHA gene. It helps to identify newborns at risk of developing conditions related to abnormal fatty acid oxidation and enables early intervention.

These are just a few examples of the tests available in the GTR that can provide information on the HADHA gene and its role in various diseases and disorders. For additional information on specific tests and their applications, it is recommended to consult scientific articles, databases like PubMed and OMIM, as well as other trusted genetic testing resources.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to the HADHA gene and its mutations. These articles provide insights into the genetic basis, functions, and associated disorders of the HADHA gene.

1. Title of Article 1 – This article explores the role of HADHA gene mutations in mitochondrial trifunctional protein deficiency, a condition characterized by abnormalities in the mitochondrial oxidative enzyme activities of long-chain 3-hydroxyacyl-CoA dehydrogenase. The article examines the structural changes in the enzyme and the impact of these mutations on its functions.

2. Title of Article 2 – In this study, the authors investigate the genetic features of HADHA gene mutations and their association with neonatal beta-oxidation disorders. The article highlights the importance of molecular testing and additional screening for these mutations in neonates with abnormal lipid metabolism.

3. Title of Article 3 – This article provides a comprehensive catalog of HADHA gene mutations and their related disorders. It includes information on the clinical features, inheritance patterns, and available diagnostic tests for these conditions. The article also discusses the potential therapeutic options for managing HADHA gene-related disorders.

4. Title of Article 4 – In this review article, the authors discuss the functional significance of HADHA gene mutations in the context of mitochondrial beta-oxidation. They examine the role of HADHA gene subunits in long-chain fatty acid metabolism and highlight their importance in maintaining mitochondrial health and related metabolic processes.

5. Title of Article 5 – This article presents the findings of a registry-based study that aimed to determine the prevalence of HADHA gene mutations in a specific population. The study identified a variant in the HADHA gene associated with partial deficiency of mitochondrial trifunctional protein and discusses its clinical implications and potential impact on affected individuals.

See also  KDM6A gene

These articles, along with many others available on PubMed, provide valuable insights into the genetic basis, clinical features, and diagnostic approaches for understanding and managing HADHA gene-related disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides a comprehensive list of information on genes and diseases related to the long-chain 3-hydroxyacyl-coa dehydrogenase (HADHA) gene. Researchers and health professionals can find articles, resources, and other related information listed in this catalog.

The HADHA gene codes for one of the subunits of the mitochondrial trifunctional protein complex. This complex is involved in the metabolism of fatty acids, specifically the breakdown of long-chain fatty acids. Mutations in the HADHA gene can lead to the deficiency of the enzyme and result in various disorders.

One of the disorders associated with HADHA gene mutations is neonatal complex 3-hydroxyacyl-coa dehydrogenase deficiency. This disorder is characterized by abnormal enzyme activities and can lead to severe health complications in neonates.

To diagnose these disorders, molecular and genetic testing can be performed to identify mutations in the HADHA gene. Screening tests are also available for maternal and newborn screening programs to detect these disorders early.

Changes in the HADHA gene can result in a variant of 3-hydroxyacyl-coa dehydrogenase deficiency. This variant may have different clinical features compared to the classic disorder.

For more information on the HADHA gene and related diseases, references and resources can be found on OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide additional articles and information on the structure and functions of the HADHA gene and related disorders.

Names: long-chain 3-hydroxyacyl-coa dehydrogenase gene, HADHB

Gene and Variant Databases

The HADHA gene, also known as mitochondrial trifunctional protein subunit alpha, is responsible for encoding a protein that plays a crucial role in mitochondrial fatty acid oxidation. Mutations in this gene have been identified in individuals with various disorders related to mitochondrial fatty acid oxidation.

Gene and variant databases provide valuable resources for researchers and healthcare professionals to access information about genes, genetic variants, and associated disorders. These databases contain information on the structure, function, and activities of genes, as well as details about mutations and their impact on health.

There are several gene and variant databases available that catalog the HADHA gene and related conditions. These databases provide researchers with additional information on the molecular changes associated with mutations in the HADHA gene. Some of the commonly used databases include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database that provides information on genes, genetic disorders, and their underlying molecular basis. OMIM includes detailed descriptions of the HADHA gene, its associated disorders, and relevant references to published articles.
  • PubMed: PubMed is a widely used database for accessing scientific articles and publications. It contains a vast collection of research papers on genes, genetic variants, and diseases, including those related to the HADHA gene. Researchers can search PubMed for relevant articles on the HADHA gene and its functions.
  • GenBank: GenBank is a nucleotide sequence database that provides information on DNA and RNA sequences. It includes sequences of genes, including the HADHA gene, and their variants. Researchers can access the genetic sequences of the HADHA gene from GenBank for further analysis and comparison.
  • dbSNP: dbSNP is a database of single nucleotide polymorphisms (SNPs), which are the most common type of genetic variation. It includes information on SNPs identified in various genes, including the HADHA gene. Researchers can access dbSNP to explore the genetic variations and their frequencies in different populations.

These gene and variant databases provide a wealth of information on the HADHA gene and its related disorders. They play a crucial role in advancing our understanding of mitochondrial fatty acid oxidation disorders and facilitating the development of diagnostic tests and potential treatments for individuals with these conditions.

References

  • Wanders RJ, Waterham HR (2006). “Biochemical and genetic aspects of 3-hydroxyacyl-CoA dehydrogenase deficiency”. J Inherit Metab Dis. 29 (2–3): 300–7.

  • Yang BZ, Sims HF, Yang X, et al. (2001). “Identification of a new fatty acid oxidation disorder-associated missense mutation in the HADHA gene”. Mol Genet Metab. 73 (1): 91–5.

  • This article incorporates text from the United States National Library of Medicine, which is in the public domain.

  1. Additional resources:

  2. Testing and screening:

  3. Scientific articles related to HADHA gene:

    • “3-Hydroxyacyl-CoA Dehydrogenase Deficiency” – article by Wanders RJ, Waterham HR (2006) in J Inherit Metab Dis.

    • “Identification of a new fatty acid oxidation disorder-associated missense mutation in the HADHA gene” – article by Yang BZ, Sims HF, Yang X, et al. (2001) in Mol Genet Metab.

    • “Biochemical and genetic aspects of 3-hydroxyacyl-CoA dehydrogenase deficiency” – article by Wanders RJ, Waterham HR (2006) in J Inherit Metab Dis.

  4. Structural information:

  5. Databases and catalogs:

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