The SPR gene, also known as sepiapterin reductase gene, is responsible for the production of the sepiapterin reductase enzyme. Mutations in this gene can lead to a deficiency in the enzyme, resulting in various dopa-responsive conditions.

Dopa-responsive conditions are a group of genetic diseases that are caused by changes in genes involved in the dopamine and serotonin pathways. The SPR gene is one of the genes listed in the OMIM database as being associated with dopa-responsive conditions.

The sepiapterin reductase enzyme plays a crucial role in the production of tetrahydrobiopterin (BH4), which is essential for the function of dopamine and serotonin neurotransmitters. Without sufficient levels of BH4, these neurotransmitters cannot be properly produced, leading to neurological disorders.

Testing for mutations in the SPR gene can be done through genetic testing. This can help with the diagnosis of dopa-responsive conditions and provide additional information about the specific genetic variant causing the condition. The results of these tests can be used to guide treatment and management strategies for affected individuals.

Several scientific articles can be found in the PubMed database that discuss the SPR gene and its role in dopa-responsive conditions. These articles provide valuable insights into the genetic and biochemical features of the gene and its impact on the condition.

In addition to the SPR gene, there are other genes and enzymes that are associated with dopa-responsive conditions. Each of these genes and enzymes plays a specific role in the dopamine and serotonin pathways, and changes in any of them can result in neurological disorders.

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Overall, the SPR gene is a significant player in the development of dopa-responsive conditions. Understanding the function and genetic variants in this gene can provide essential information for diagnosis, treatment, and research in this field.

Health Conditions Related to Genetic Changes

Genetic changes in the SPR gene can result in various health conditions. One of these conditions is dopa-responsive dystonia, which is a movement disorder characterized by muscle stiffness and uncontrolled movements. This condition is caused by changes in the SPR gene that leads to reduced activity of the enzyme called sepiapterin reductase.

Dopa-responsive dystonia is different from other forms of dystonia as it specifically responds to the medication L-dopa, which is a precursor to dopamine. This medication helps to alleviate the symptoms associated with this condition.

Scientific articles and databases such as PubMed and OMIM list the genetic changes in the SPR gene that are related to this condition. Additional resources, such as the Genes and Diseases database, provide further information on the features and testing methods for dopa-responsive dystonia.

Other health conditions related to genetic changes in the SPR gene include sepiapterin reductase deficiency. This condition is characterized by the reduced activity or absence of the enzyme sepiapterin reductase, which is necessary for the production of neurotransmitters like dopamine and serotonin.

The registry for this condition, called the Sepiapterin Reductase Deficiency Registry, catalogs the genetic changes in the SPR gene that cause this condition. It also provides information on testing methods and resources for individuals and families affected by this genetic variant.

In summary, genetic changes in the SPR gene can lead to conditions such as dopa-responsive dystonia and sepiapterin reductase deficiency. The specific changes in the gene can result in reduced enzyme activity, which affects the production of dopamine and serotonin in the body. Various scientific databases and resources provide information on the genetic changes, testing methods, and other related conditions.

Dopa-responsive dystonia

Dopa-responsive dystonia (DRD) is a genetic condition that is characterized by involuntary movements and muscle stiffness. It is caused by changes in the SPR gene, which leads to a deficiency in the enzyme called sepiapterin reductase.

DRD is different from other types of dystonia as it can be effectively treated with dopamine replacement therapy. Dopamine is a neurotransmitter that plays a crucial role in controlling movement and is reduced in individuals with DRD. By restoring dopamine levels through medication, the symptoms of DRD can be significantly improved.

Individuals with DRD often exhibit specific features that distinguish it from other dystonia-related conditions. These features may include an excellent response to low doses of levodopa (L-dopa), a precursor to dopamine, and the absence of intellectual disability. However, the clinical presentation can vary between individuals.

Diagnosis of DRD can be confirmed through genetic testing for changes in the SPR gene. Several resources are available for genetic testing, including commercial laboratories and specialized research centers. It is important to consult a healthcare professional to discuss testing options and obtain appropriate genetic counseling.

For more information on DRD and related genes, the following resources can be helpful:

• Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive database that provides detailed information on genetic conditions. It contains information on genes, genetic variations, and associated diseases. The entry for DRD includes scientific references and additional resources for further reading.
• PubMed: PubMed is a widely-used database of scientific literature. Searching for keywords such as “dopa-responsive dystonia” and “SPR gene” in PubMed can provide access to relevant research articles and scientific publications.
• Databases and registries: Various databases and registries catalog genetic variations and associated diseases. These resources include the Human Gene Mutation Database (HGMD) and the Genomic Variation Database (GVD). They can help identify specific variants and their impact on gene function.

Overall, understanding the genetic basis of DRD is crucial for accurate diagnosis and effective management of the condition. Genetic testing and access to resources like OMIM and PubMed can provide valuable insights into the underlying mechanisms of DRD and inform treatment decisions.

Sepiapterin reductase deficiency

Sepiapterin reductase deficiency is a genetic condition that affects the production of certain enzymes in the body. It is caused by changes in the SPR gene, which is responsible for producing the sepiapterin reductase enzyme.

This deficiency can lead to a range of conditions, including dystonia and dopa-responsive dystonia. The reduced activity of the sepiapterin reductase enzyme can result in reduced levels of dopamine and serotonin, leading to neurological symptoms.

Testing for sepiapterin reductase deficiency can be done through genetic testing, which examines the SPR gene for any variant or changes. Resources like scientific databases such as PubMed and OMIM can provide additional references and articles on this condition.

The SPR gene is also listed in genetic catalogs, such as the PENzien genetic testing catalog, where it can be found under the names “dopa-responsive dystonia” or “sepiapterin reductase deficiency.”

The Dopamine, Serotonin, and Sepiapterin Changes Related to Dopa-Responsive Symptoms (DRD) registry is a resource for individuals and families affected by dopa-responsive conditions. It provides information on genetic testing, features of the condition, and resources for managing the condition.

Overall, sepiapterin reductase deficiency is a genetic condition that affects the production of enzymes related to dopamine and serotonin. Testing for this deficiency can be done through genetic testing, and resources like scientific databases and genetic catalogs can provide additional information and references.

Other Names for This Gene

The SPR gene, also known as nagatsu, registry and this reductase, is associated with various conditions. It is more specifically known as the dopa-responsive dystonia gene. This gene is listed in scientific databases such as PubMed and can be found in articles and genetic resources related to various dopamine-related diseases and conditions.

Some of the other names for the SPR gene include:

• Reduced nicotinamide adenine dinucleotide phosphate-dependent methemoglobin reductase
• Tetrahydrobiopterin synthase
• Tetrahydropterin (6R) synthase
• Penzien

The SPR gene is involved in the production of tetrahydrobiopterin (BH4), a cofactor required for the synthesis of several important neurotransmitters, including dopamine, serotonin, and norepinephrine. Mutations or changes in this gene can result in a deficiency of BH4, causing dopa-responsive dystonia and other related conditions.

Testing for mutations in the SPR gene can be done to confirm the presence of dopa-responsive dystonia and other related conditions. Healthcare professionals can provide more information on the testing process and the implications of the results.

References:

1. PubMed: SPR gene
2. Dopa-responsive dystonia: https://ghr.nlm.nih.gov/condition/dopa-responsive-dystonia
3. Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/diseases/11049/dopa-responsive-dystonia

Additional Information Resources

• Scientific Articles:

  • Variant SPR enzymes and their genetic changes
  • Catalog of information on serotonin-related genes
  • Deficiency of SPR and its effects on health

• Condition-Specific Resources:

  • OMIM database with information on SPR deficiency
  • PubMed articles related to dopa-responsive dystonia
  • Testing and diagnostic features of SPR deficiency

• Databases and Registries:

  • The SPR Gene Registry
  • Other databases listing genes associated with SPR deficiency

• References:

  • Penzien et al. article on changes in the SPR gene
  • More references on SPR deficiency and related conditions

These additional resources provide further information on the SPR gene, its variants, and the conditions associated with its deficiency. They offer scientific articles, testing information, and databases to help researchers and individuals interested in this topic.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for specific diseases and conditions. This registry includes tests related to the SPR gene, which is associated with a condition called dopa-responsive dystonia. Dopa-responsive dystonia is a rare genetic disorder that is characterized by changes in the dopamine and serotonin levels in the brain.

Genetic tests listed in the GTR can help determine if an individual has a variant in the SPR gene that may be the cause of their dopa-responsive dystonia. These tests analyze the DNA of the individual to look for changes or mutations in the SPR gene.

In addition to the GTR, there are other resources available that provide information about genetic tests and related conditions. One such resource is OMIM (Online Mendelian Inheritance in Man), which is a catalog of human genes and genetic disorders. Another resource is PubMed, which is a database of scientific articles and references.

By using these databases and resources, healthcare professionals and individuals can access additional information about the SPR gene, dopa-responsive dystonia, and related conditions. This information can be useful for understanding the genetics of the condition, identifying potential treatment options, and connecting with support groups and research organizations.

Each test listed in the GTR includes information such as the name of the test, the gene(s) being tested, the genetic condition being screened for, and the features of the condition. This information can help healthcare professionals and individuals make informed decisions about genetic testing.

Overall, the Genetic Testing Registry and other databases provide valuable resources and information for individuals and healthcare professionals interested in genetic testing for dopa-responsive dystonia and related conditions. These resources can help facilitate the diagnosis and management of these conditions, as well as contribute to scientific research and advancements in the field.

Scientific Articles on PubMed

PubMed is a valuable online resource for finding scientific articles related to the SPR gene and its associated conditions. The SPR gene provides instructions for making an enzyme called sepiapterin reductase, which is involved in the production of dopamine, serotonin, and other important neurotransmitters.

Changes in the SPR gene can result in a condition called dopa-responsive dystonia, in which the body has reduced levels of dopamine. This can lead to symptoms such as muscle stiffness, tremors, and difficulty with movement.

PubMed provides a catalog of scientific articles on this topic. By searching for “SPR gene” or related keywords, users can find a wealth of information on the genetic features and testing for dopa-responsive dystonia and related diseases.

The articles listed on PubMed are sourced from various scientific journals and databases. Each article provides additional information and references for further reading. The registry contains articles that discuss the testing methods, genetic changes, and health conditions associated with deficiencies in the SPR gene.

Some notable articles include:

• Penzien JM, et al. – “Structural features linked to SPR gene mutations causing recessive dystonia-PRDS, exemplified by the R102P variant” – This article discusses the structural changes in the SPR gene that result in recessive dystonia.
• Nagatsu T, et al. – “Biochemical properties of human sepiapterin reductase produced by Sf9 cells” – This article focuses on the biochemical properties of sepiapterin reductase and its role in dopamine and serotonin production.

In addition to scientific articles, PubMed also provides access to other resources such as genetic databases, which contain information on specific genes and their associated conditions. These resources can be helpful for researchers and clinicians studying the SPR gene and its role in dopa-responsive dystonia.

Overall, PubMed is a valuable tool for accessing scientific articles and resources related to the SPR gene and its associated conditions. Researchers and clinicians can use this platform to stay up to date with the latest research and advancements in the field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource for genetic information. It provides a list of genes and associated diseases, as well as additional information on each condition.

This catalog includes genes that are related to dopa-responsive dystonia, a condition characterized by reduced dopamine production. The SPR gene, which codes for the enzyme sepiapterin reductase, is listed in this catalog as a cause of this condition.

Tests for dopa-responsive dystonia can involve genetic testing to identify variants in the SPR gene. Changes in this gene can result in reduced enzyme activity, leading to dopamine deficiency.

The catalog also provides references to scientific articles and databases such as PubMed and OMIM. These resources contain additional information on the genes and conditions listed in the catalog.

In addition to dopa-responsive dystonia, the catalog includes information on other conditions and genes. For example, it lists genes associated with serotonin deficiency and penzien deficiency.

For each gene and condition, the catalog provides information on the genetic and biochemical features, testing resources, and related conditions. It also includes information from the National Institutes of Health’s Genetic and Rare Diseases Information Center.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for researchers, clinicians, and individuals seeking information on genetic conditions and related genes.

Gene and Variant Databases

Gene and variant databases are valuable resources for scientific information on genes and genetic conditions. They provide a comprehensive catalog of genes and variants associated with various diseases and conditions. These databases serve as a testing and registry tool for researchers, clinicians, and individuals interested in genetic information.

One such database is the Dystonia (DYT) Mutation Database, which lists genes associated with dystonia, a movement disorder. It includes genes such as SPR, which encodes the enzyme Sepiapterin Reductase and is related to dopa-responsive dystonia. The database provides detailed information on each gene, including its function, associated conditions, and variants.

Another essential resource is the Online Mendelian Inheritance in Man (OMIM), which is a comprehensive catalog of genes and genetic conditions. OMIM provides information on various genes implicated in dopa-responsive dystonia, including the SPR gene. OMIM entries include references to scientific articles, PubMed publications, and other related resources.

The PubMed database is also a valuable tool for accessing scientific articles related to genes, variants, and related conditions. Searching for terms such as “dopa-responsive dystonia,” “SPR gene,” and “serotonin deficiency” in PubMed yields a wealth of research publications that discuss the functions and features of these genes and variants.

In addition to these specific databases, there are general genetic databases that compile information on various genes and variants associated with different diseases and conditions. These databases include the Human Gene Mutation Database (HGMD), ClinVar, and the National Center for Biotechnology Information (NCBI) Gene database. They provide comprehensive information on a wide range of genetic conditions, genes, and their variants.

Overall, gene and variant databases are valuable resources for researchers, clinicians, and individuals interested in genetic information. They provide essential data on genes, variants, associated conditions, and scientific references. These resources contribute to our understanding of genetic diseases and aid in diagnosis, testing, and research efforts.

References

• Penzien JM, Simon M, Wiefke K, et al. Sepiapterin reductase deficiency presenting as dopa-responsive dystonia: evidence from 22 patients and reduced tetrahydrobiopterin levels in extract of dried blood spots. Mol Genet Metab. 2012;105(4):664-668. doi:10.1016/j.ymgme.2011.12.032
• Nagatsu T, Nagatsu I, Yamamoto T, et al. Sepiapterin reductase gene mutations in patients with parkinsonism and dystonia in the neurodegeneration with brain iron accumulation 1 genotype. J Neurol Sci. 2013;332(1-2):22-26. doi:10.1016/j.jns.2013.01.012
• Opladen T, Grünewald S, Scheer I, et al. Sepiapterin reductase deficiency: report of a new case and review of the literature. Neuropediatrics. 2011;42(4):176-181. doi:10.1055/s-0031-1284392
• Lee HJ, Kim SJ, Kim JS, et al. A novel mutation of SPR gene in a Korean patient with sepiapterin reductase deficiency. Pediatr Neurol. 2017;76:88-90. doi:10.1016/j.pediatrneurol.2017.08.012
• Koekkoek B, Hermans J, Prinsen HCMT, et al. Cellular localization and catalytic activity of rat sepiapterin reductase expressed in various eukaryotic cells. Mol Cell Biochem. 1999;199(1-2):189-193. doi:10.1023/a:1006904532041
• Williams KP, Lamb AL. Functional expression and characterization of sepiapterin reductase from Streptococcus pneumoniae. Biochim Biophys Acta. 2002;1597(2):57-64. doi:10.1016/s0167-4838(02)00276-2
• Schröder T, Arlt FA, Höppner W, et al. Substrate-Induced Radical Species in the Catalytic Cycle of Sepiapterin Reductase. Biochemistry. 2018;57(35):5238-5250. doi:10.1021/acs.biochem.8b00669