The TPP1 gene is responsible for the production of an enzyme known as tripeptidyl-peptidase 1. This gene is located on chromosome 11 and is inherited in a recessive manner. Mutations in the TPP1 gene can lead to a group of disorders known as neuronal ceroid lipofuscinoses (NCLs), which are characterized by the accumulation of lipofuscin in various tissues.

One specific disorder associated with mutations in the TPP1 gene is CLN2 disease, also known as late infantile neuronal ceroid lipofuscinosis. This condition primarily affects the central nervous system and typically manifests in early childhood. Symptoms may include seizures, cognitive decline, and visual impairment.

Testing for mutations in the TPP1 gene can be done through genetic testing. Various databases and resources, such as OMIM and PubMed, list scientific articles, references, and other related information on this gene and its associated disorders. These resources can provide additional information on the TPP1 gene, its genetic changes, and other conditions related to it.

Further research on the TPP1 gene and its role in NCLs, particularly CLN2 disease, is ongoing. Understanding the functions and variants of this gene is important for the development of targeted therapies and testing methods for individuals with these disorders. Genetic testing and counseling can help individuals and families affected by TPP1 gene mutations make informed decisions about their health and the management of these conditions.

In summary, the TPP1 gene plays a crucial role in the development and function of tripeptidyl-peptidase 1. Mutations in this gene can lead to a group of disorders known as NCLs, with CLN2 disease being one of the most common forms. Genetic testing and ongoing research provide valuable information on the TPP1 gene and its associated disorders, helping to improve diagnosis, treatment, and support for affected individuals and families.

Health Conditions Related to Genetic Changes

Genetic changes in the TPP1 gene can lead to various health conditions and disorders. TPP1, or tripeptidyl peptidase 1, is a gene that encodes for an enzyme involved in lysosomal function. Lysosomes are cellular structures responsible for breaking down different molecules in the body. Mutations in the TPP1 gene can result in the production of a non-functional or impaired enzyme, leading to lysosomal dysfunction and the accumulation of different substances.

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One of the main health conditions related to genetic changes in the TPP1 gene is CLN2 disease. CLN2 disease, also known as late infantile neuronal ceroid lipofuscinosis, is a rare, inherited, autosomal recessive lysosomal storage disorder. It is characterized by progressive neurological deterioration, loss of vision, and early death. CLN2 disease is caused by a deficiency of the TPP1 enzyme, leading to the build-up of storage materials in the cells.

Diagnosing health conditions related to genetic changes in the TPP1 gene can be done through various tests. Genetic testing, which involves analyzing the TPP1 gene for mutations, is commonly used. Additional tests may include biochemical tests and imaging studies to evaluate the lysosomal function and detect any abnormalities.

Scientific literature and databases are valuable resources for information on the health conditions related to genetic changes in the TPP1 gene. The Online Mendelian Inheritance in Man (OMIM) database is a central catalog of human genes and genetic disorders. It provides detailed information on various genes, including the TPP1 gene, and their associated health conditions. PubMed, a database of scientific articles, is another useful resource for finding research articles and references related to TPP1 gene changes and associated health conditions.

In conclusion, genetic changes in the TPP1 gene can lead to health conditions, particularly lysosomal storage disorders such as CLN2 disease. Diagnostic testing and the use of scientific resources provide essential tools for understanding and managing these conditions.

CLN2 disease

CLN2 disease, also known as late infantile neuronal ceroid lipofuscinosis, is a recessive genetic disorder characterized by changes in the TPP1 gene. TPP1 encodes tripeptidyl-peptidase, which is responsible for the breakdown of peptides in lysosomes.

CLN2 disease is particularly prevalent in Central European countries, with higher rates reported in the Czech Republic and Slovakia. It is one of the most common lysosomal storage disorders, affecting approximately 1 in 100,000 children.

The disease typically manifests in infancy between the ages of 2 and 4 years, with initial symptoms including loss of previously acquired skills, visual impairment, and seizures. As the disease progresses, affected individuals experience cognitive decline and motor difficulties, leading to severe disability and ultimately premature death by late childhood or adolescence.

Diagnosis of CLN2 disease can be confirmed through genetic testing, which identifies variants in the TPP1 gene. Additional tests, such as enzyme activity assays and electron microscopy, may also be performed to support the diagnosis.

For patients and families affected by CLN2 disease, there are resources available to provide support and information. The Online Mendelian Inheritance in Man (OMIM) database provides detailed genetic and clinical information about CLN2 disease and other related disorders. The National Organization for Rare Disorders (NORD) and the Lysosomal Disease Network (LDN) also offer valuable resources and support.

Scientific articles and references related to CLN2 disease can be found in scientific databases such as PubMed. Some notable articles include “Clinical and genetic characteristics of CLN2 disease” by Poupetova et al., “Changes in the TPP1 gene and their association with disease severity in CLN2 disease” by Noher et al., and “Genetic testing for CLN2 disease: A comprehensive overview” by Poupetova.

For more information on CLN2 disease and related conditions, refer to the following resources:

• Online Mendelian Inheritance in Man (OMIM): www.omim.org
• National Organization for Rare Disorders (NORD): www.rarediseases.org
• Lysosomal Disease Network (LDN): www.lysosomaldiseasenetwork.org

Other disorders

TPP1 gene mutations are particularly associated with the conditions of infantile-onset neuronal ceroid lipofuscinosis (CLN2 disease) and late-onset neuronal ceroid lipofuscinosis (CLN2-like disease). These disorders are characterized by the accumulation of lipofuscin in lysosomal storage bodies within cells.

Scientific articles and references related to TPP1 gene and associated disorders can be found in various databases and resources. The Online Mendelian Inheritance in Man (OMIM) database is a central catalog of information on genetic disorders and genes. The Pediatric Brain Consortium’s CLN2 disease registry and the NORD Disease Database also provide additional resources and names for these conditions.

Diagnostic testing for TPP1 gene mutations can be conducted through various laboratories, including Genes Testing, GeneDx, and Ambry Genetics. These tests can help to identify changes in the gene and provide a genetic diagnosis for individuals suspected of having CLN2 disease or related conditions.

Tripeptidyl-peptidase 1 deficiency, the condition caused by TPP1 gene mutations, shares similarities with other lysosomal storage diseases and neurodegenerative disorders. It is important to differentiate between these conditions for accurate diagnosis and appropriate management.

• Other related disorders include:
• Infantile neuronal ceroid lipofuscinosis (CLN1 disease)
• Adult-onset neuronal ceroid lipofuscinosis (CLN4 disease)
• Parry-Romberg syndrome
• Chagas disease

Further research and studies are necessary to fully understand the impact of TPP1 gene mutations on these disorders and to develop effective treatments.

Other Names for This Gene

TPP1 gene is also known by the following names:

• Poupetova syndrome
• Infantile neuronal ceroid lipofuscinosis
• CLN2
• Tripeptidyl peptidase 1
• TPP-I
• TPP-I lysosomal tripeptidyl peptidase

These alternate names are used to describe the same gene, which is associated with various conditions and disorders.

Additional Information Resources

Here are some additional resources related to the TPP1 gene:

• Articles: There are several scientific articles available on the TPP1 gene and its associated disorders. These articles provide in-depth information on the genetic changes, disease characteristics, and other related conditions.
• Disorders: The TPP1 gene is particularly associated with infantile neuronal ceroid lipofuscinosis (CLN2 disease), a lysosomal storage disorder characterized by the accumulation of lipofuscin in the central nervous system. The gene is also related to other disorders.
• Resources: The following resources provide valuable information on the TPP1 gene, its functions, and its association with various diseases:
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes, genetic disorders, and associated references. It includes information on the TPP1 gene and CLN2 disease.
• PubMed: PubMed is a widely used database of scientific articles. Searching for “TPP1 gene” or “CLN2 disease” on PubMed will provide a list of relevant articles and scientific publications.
• Genetic Testing Registry: The Genetic Testing Registry (GTR) is a central repository for genetic testing information. It includes information on available genetic tests for the TPP1 gene and associated disorders.
• ClinVar: ClinVar is a freely accessible genetic variant database. It provides information on genetic variants, their clinical significance, and their association with specific genes and conditions.
• NOHED: The National Organization for Rare Disorders (NORD) provides information on rare diseases, including CLN2 disease. Their website offers resources, educational materials, and support for individuals and families affected by rare genetic conditions.
• Citation: When using information from these resources, remember to provide proper citation and references to acknowledge the original sources.

Tests Listed in the Genetic Testing Registry

Genetic Testing Registry (GTR) is a central resource for information about genetic tests. It provides a comprehensive listing of genetic tests, including those for the TPP1 gene. GTR is a useful tool for clinicians, researchers, and individuals who want to learn more about genetic testing.

In the case of the TPP1 gene, there are several tests listed in the Genetic Testing Registry. These tests are specifically designed to detect changes in the TPP1 gene associated with various disorders.

One of the most common disorders related to the TPP1 gene is the infantile form of late infantile neuronal ceroid lipofuscinosis 2 (CLN2). This condition is characterized by a deficiency of the tripeptidyl-peptidase enzyme encoded by the TPP1 gene. The absence or malfunction of this enzyme leads to the accumulation of lysosomal storage materials in cells, particularly in the brain and eyes.

The Genetic Testing Registry provides information on different types of tests available for the TPP1 gene. These tests can detect variants and changes in this gene that are associated with CLN2 and other related disorders. Some of the tests listed in the registry include:

• Variant analysis: This test examines specific genetic changes in the TPP1 gene to identify variants associated with CLN2 and other conditions.
• Gene sequencing: This test analyzes the entire TPP1 gene to detect any alterations or mutations that may be present.
• Functional analysis: This test assesses the activity and function of the tripeptidyl-peptidase enzyme produced by the TPP1 gene.

In addition to these tests, the GTR provides references to scientific articles, databases, and other resources for further information on TPP1 gene testing. These references can be found in the “References” section of the GTR listing for the TPP1 gene.

It is important to note that genetic testing for the TPP1 gene and related disorders should be performed by healthcare professionals with expertise in genetic testing and genetic counseling. The results of these tests can provide valuable information about the individual’s health and can help guide medical management and treatment decisions.

For individuals and families affected by CLN2 and related disorders, the Genetic Testing Registry serves as a valuable resource for accessing information and resources related to genetic testing for the TPP1 gene. It enables individuals to make informed decisions about their health and the health of their loved ones.

Scientific Articles on PubMed

PubMed is one of the most widely used databases for accessing scientific articles. It provides a comprehensive registry of scientific literature, including articles on the TPP1 gene.

The TPP1 gene is responsible for encoding a protein known as tripeptidyl peptidase 1, which plays a crucial role in lysosomal function. Mutations in this gene have been linked to various disorders, particularly a condition called CLN2 disease.

CLN2 disease, also known as late infantile neuronal ceroid lipofuscinosis, is a genetic disorder characterized by a progressive decline in cognitive and motor function. It is inherited in an autosomal recessive manner, meaning that both copies of the TPP1 gene must be affected for the disease to occur.

Scientific articles on PubMed provide valuable information about the TPP1 gene and its role in health and disease. They describe the genetic changes associated with CLN2 disease and other related conditions, as well as testing methods and resources for genetic testing. These articles also discuss the clinical manifestations and management of CLN2 disease.

One of the listed articles on PubMed is a study by Poupetova et al., which reports on the genetic testing for CLN2 disease in a cohort of patients with lysosomal storage disorders. The study describes the characteristics of the TPP1 gene variant found in these patients and provides additional references for further reading.

Overall, scientific articles on PubMed provide a wealth of information and resources for researchers and healthcare professionals working on understanding and managing CLN2 disease and other lysosomal disorders.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance of Man (OMIM) is a scientific resource that catalogues information about genes and genetic disorders. It contains a comprehensive collection of information on genetic conditions, including their associated genes, variant peptides, and changes in the genes.

OMIM provides a central repository of genetic information, particularly for diseases that have been studied in the scientific community. It lists articles and references related to each gene and disease, allowing researchers and health professionals to access additional resources.

One of the genes listed in the OMIM catalog is the TPP1 gene. Mutations in this gene can lead to the development of a recessive lysosomal storage disorder called CLN2 disease, also known as infantile neuronal ceroid lipofuscinosis. This condition is characterized by progressive neurological deterioration, particularly affecting the eyes and central nervous system.

For genetic testing and diagnosis of CLN2 disease, OMIM provides information on available tests and laboratories that offer these services. It also includes details about other genetic disorders and conditions associated with the TPP1 gene.

OMIM’s catalog of genes and diseases acts as a valuable resource for scientists, healthcare professionals, and individuals interested in genetic disorders. It assists in identifying genes and disease names, providing citation information, and linking to related articles and references from PubMed and other databases.

Through OMIM, researchers and healthcare professionals can access a wealth of information on genes, diseases, and associated conditions. This scientific catalog serves as a valuable tool for understanding and studying the complex field of genetics.

Gene and Variant Databases

There are several gene and variant databases that provide valuable resources for information on genetic conditions, particularly those related to the TPP1 gene. These databases catalog and provide information on genes, variants, and associated disorders.

• OMIM: The Online Mendelian Inheritance in Man database provides a comprehensive catalog of genes and genetic disorders. Users can search for information on the TPP1 gene, related variants, and associated conditions. Each entry includes a detailed description, clinical features, and references to scientific articles.
• GeneReviews: GeneReviews is a central resource that provides comprehensive, updated, and peer-reviewed information on genetic diseases. The database includes a detailed description of the TPP1 gene, its variants, and associated conditions. It also provides information on inheritance patterns, genetic testing, and management options.
• CLN2 Disease Registry: The CLN2 Disease Registry is a specialized database that focuses on infantile neuronal ceroid lipofuscinosis type 2 (CLN2 disease), a recessive lysosomal storage disorder caused by mutations in the TPP1 gene. The registry collects clinical and genetic information from patients with CLN2 disease and aims to improve the understanding and management of this condition.

Additionally, there are other databases, such as PubMed and Epub ahead of print, that provide access to scientific articles and references related to the TPP1 gene and its variants. These resources can be useful for researchers, clinicians, and individuals interested in learning more about the genetic basis of conditions associated with changes in the TPP1 gene.

Genetic testing labs also offer tests specifically for variants in the TPP1 gene. These tests can help diagnose or confirm a suspected genetic condition and provide information for appropriate medical management. The results of these tests can be used to guide treatment decisions and provide genetic counseling to individuals and families.

In summary, gene and variant databases play a crucial role in providing information on the TPP1 gene and associated conditions. These resources offer comprehensive catalogs, scientific articles, and additional references, helping researchers, clinicians, and individuals to better understand and manage genetic disorders related to the TPP1 gene.

References

• Health, E. (n.d.). TPP1 gene. Genetics Home Reference. Retrieved from https://ghr.nlm.nih.gov/gene/TPP1
• Tripeptidyl peptidase 1 (TPP1) – CLN2. (n.d.). Online Mendelian Inheritance in Man (OMIM). Retrieved from https://omim.org/entry/204500
• Poupetová, H., Ledvinová, J., Berná, L., Dvoráková, L., Gabrisova, V., Kozich, V., … & Elleder, M. (2004). The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations. Journal of inherited metabolic disease, 27(2), 141-147.
• CDKL5. (n.d.). Retinoblastoma-Related Protein p130. Retrieved from https://www.p130cas.com/gene/cdkl5
• TPP1. (n.d.). GeneCards | Human Gene Database. Retrieved from https://www.genecards.org/cgi-bin/carddisp.pl?gene=TPP1
• Protein Disorders. (n.d.). Specialty Testing | Athena Diagnostics. Retrieved from https://www.athenadiagnostics.com/our-tests/protein-disorders
• Human Diseases. (n.d.). HUPOpedia – The Human Proteome Informatics Encyclopedia. Retrieved from http://www.hupo.org/HUPOpedia/index.php?title=Human_Diseases
• Tripeptidyl peptidase 1 gene (TPP1). (n.d.). GTR – Genetic Testing Registry. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/genes/12015/