The PSEN2 gene, also known as the presenilin 2 gene, is related to familial Alzheimer’s disease. It is one of the genes that can cause early-onset Alzheimer’s disease when mutated. Mutations in this gene lead to changes in the processing of the amyloid beta peptide, which is the main component of amyloid plaques found in the brains of Alzheimer’s patients. These amyloid plaques are believed to play a role in the development and progression of the disease.

The PSEN2 gene is listed in various genetic databases, including OMIM and the PubMed database, where additional information on this gene and its role in Alzheimer’s disease can be found. This gene is also listed in the GeneCards database, which provides information on the function, expression, and related diseases of genes.

Testing for mutations in the PSEN2 gene can be performed as part of genetic testing for familial Alzheimer’s disease. Genetic testing can help identify individuals who are at increased risk for developing the disease, as well as provide information on other genetic conditions and disorders that may be associated with mutations in this gene.

For more information on the PSEN2 gene and its role in Alzheimer’s disease, including scientific articles, references, and resources, you can refer to the PubMed database or consult the Alzheimer’s Disease Genetic Testing Registry.

Health Conditions Related to Genetic Changes

Genetic changes in the PSEN2 gene have been associated with several health conditions. These changes can affect the normal process of protein production and lead to the development of certain diseases.

Dilated cardiomyopathy is one of the health conditions related to genetic changes in the PSEN2 gene. This condition is characterized by the enlargement of the heart chambers, leading to a decrease in cardiac function. Genetic testing can help identify these changes in the PSEN2 gene.

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Alzheimer’s disease is another condition that can be caused by genetic changes in the PSEN2 gene. This disease is characterized by the buildup of amyloid beta proteins in the brain, leading to the deterioration of cognitive function. Testing for genetic changes in the PSEN2 gene can help identify individuals at risk for developing Alzheimer’s disease.

In addition to these conditions, genetic changes in the PSEN2 gene have also been associated with other dilated cardiomyopathies and related disorders. The role of the PSEN2 gene in these conditions is still being studied, and further research is needed to fully understand its impact.

Resources such as scientific articles, databases, and registries are available to gather additional information on these health conditions related to the PSEN2 gene. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genetic disorders and associated genes. PubMed is a useful resource for accessing scientific publications and references related to these conditions.

Genetic testing can be performed to identify specific genetic changes in the PSEN2 gene. This testing can help in the diagnosis and management of individuals with these health conditions. It is important to consult with healthcare professionals to understand the implications of genetic changes and to explore all available testing options.

It is important to note that genetic changes in the PSEN2 gene may not be the sole cause of these health conditions. Other genes and environmental factors may also play a role. Consulting with healthcare professionals and genetic counselors can provide more specific information and guidance regarding testing, diagnosis, and management of these conditions.

Alzheimer’s disease

Alzheimer’s disease is a neurodegenerative disorder that mainly affects older adults. It is characterized by a progressive decline in memory, thinking, and reasoning skills. The exact cause of Alzheimer’s disease is not known, but it is believed to be influenced by a combination of genetic, environmental, and lifestyle factors.

One gene that has been implicated in Alzheimer’s disease is the PSEN2 gene. PSEN2 stands for “presenilin-2” and is located on chromosome 1. Mutations in the PSEN2 gene have been found to cause familial Alzheimer’s disease, a rare form of the disease that is inherited in an autosomal dominant pattern.

The PSEN2 gene provides instructions for making a protein that is involved in the processing of beta-amyloid, a protein fragment that is a major component of amyloid plaques found in the brains of individuals with Alzheimer’s disease. These plaques are thought to contribute to the destruction of nerve cells and the development of the characteristic symptoms of the disease.

Changes in the PSEN2 gene can lead to the production of an abnormal form of this protein, which in turn can lead to the accumulation of beta-amyloid and the development of Alzheimer’s disease. Additional research is needed to fully understand the role of the PSEN2 gene in the disease process.

Testing for changes in the PSEN2 gene can be done through genetic testing companies or specialized laboratories. This testing can help to diagnose familial Alzheimer’s disease and provide information about the risk of developing the disease in family members.

Resources for information on the PSEN2 gene and Alzheimer’s disease can be found in scientific databases such as PubMed and OMIM, as well as through online health resources and research articles. The Alzheimer’s Disease Genetics Consortium and the Alzheimer’s Disease & Related Disorders Registry provide additional resources for testing and information on the disease.

In summary, the PSEN2 gene plays a role in the development of Alzheimer’s disease, particularly in cases of familial Alzheimer’s disease. Testing for changes in the gene can provide important information for diagnosis and risk assessment. Additional research is needed to fully understand the exact role of the PSEN2 gene in the disease process.

Familial dilated cardiomyopathy

Familial dilated cardiomyopathy (DCM) is a genetic disorder characterized by the dilation of the heart chambers and impaired cardiac function. It is a condition that can lead to heart failure and other complications.

The PSEN2 gene, also known as the presenilin-2 gene, is one of the genes that has been associated with familial DCM. This gene is involved in the production of beta-amyloid precursor protein and other proteins that play a role in the development of Alzheimer’s disease. Changes in this gene can contribute to the development of familial DCM.

There are several articles and studies available on pubmed and other scientific databases that provide information on the role of the PSEN2 gene in familial DCM. These articles explore the genetic changes and variants in this gene that are associated with the development of the disease. They also discuss the potential mechanisms by which these changes in the PSEN2 gene contribute to the development of familial DCM.

Additional resources for information on familial DCM and related genes can be found on the OMIM (Online Mendelian Inheritance in Man) database and other genetic testing registries. These resources provide information on the genetic variant, amino acid changes, and other genetic information that are associated with familial DCM.

Genetic testing for familial DCM can help identify individuals who may be at risk for developing the condition. These tests can detect changes in genes such as the PSEN2 gene and provide valuable information to individuals and their healthcare providers about their risk for developing familial DCM.

In summary, familial dilated cardiomyopathy is a genetic disease characterized by heart chamber dilation and impaired cardiac function. The PSEN2 gene and other related genes play a role in the development of this disease. Resources such as pubmed, omim, and genetic testing registries provide information on the role of genes and genetic variants in familial DCM.

Other Names for This Gene

The PSEN2 gene is also known by the following names:

• PRES2
• AD4
• STM2
• CD:CP2
• PS2
• PIG2
• STM-2

These alternate names for the PSEN2 gene are used in scientific literature, databases, and resources for research on Alzheimer’s disease, familial dilated cardiomyopathy, and other genetic conditions. By listing these names, researchers can easily find and access information on the role of the PSEN2 gene in the development and progression of these diseases.

Additional Information Resources

For further information on the PSEN2 gene variant testing, you can refer to the following resources:

• PubMed: You can find scientific articles related to the PSEN2 gene and its associated conditions and diseases by searching on PubMed. This database contains a vast collection of research articles on genes, proteins, and diseases.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic disorders. You can find detailed information on the PSEN2 gene, its related diseases and conditions, and associated genetic changes.
• GeneCards: GeneCards is a searchable database that provides information on genes, proteins, and related diseases. You can find information on the PSEN2 gene, its aliases and other gene names, protein structure, related diseases, and peptide sequences.
• Alzheimer’s Disease and Down Syndrome Alzheimer’s Disease Related Resources in PubMed: This resource is a catalog of references from the scientific literature on Alzheimer’s disease and Down syndrome-related research. You can find articles related to the role of the PSEN2 gene in the disease process.
• Human Gene Mutation Database (HGMD): HGMD is a comprehensive registry of human gene mutations and their association with genetic disorders. You can find information on genetic changes in the PSEN2 gene and their relationship to familial Alzheimer’s disease and other conditions.
• Dilated Cardiomyopathy mutation database: This database catalogs genetic changes associated with dilated cardiomyopathy, a condition characterized by the enlargement of the heart chambers. You can find information on any PSEN2 gene variants associated with this disorder.

These resources provide a wealth of information on the PSEN2 gene, its variants, and related diseases. They can be valuable references for further investigations and genetic testing.

Tests Listed in the Genetic Testing Registry

The Genetic Testing Registry (GTR) provides information about genetic tests for a variety of diseases and conditions. The registry lists tests that are currently available, as well as those in development or discontinued. In the context of the PSEN2 gene, the GTR includes tests related to changes in this gene and its associated disorders.

Genetic testing can help identify changes or variants in the PSEN2 gene that may be associated with certain conditions. These tests can be used to diagnose or confirm a diagnosis of disorders such as Alzheimer’s disease, familial dilated cardiomyopathy, and other related conditions.

The GTR contains a wealth of information about these tests, including the names of the genes and proteins involved, amino acid sequences, and references to scientific articles and databases such as PubMed and OMIM. The registry also provides additional resources for health professionals and individuals seeking more information about the genetic testing process.

In the GTR, tests related to the PSEN2 gene are listed under various names, including PSEN2 variant analysis, PSEN2 gene sequencing, and PSEN2 mutation analysis. These tests may be conducted using different methodologies and technologies, such as DNA sequencing or targeted mutation analysis.

By exploring the GTR, individuals can access information about the availability of genetic tests for PSEN2-related diseases, the specific genes and variants tested, and the overall process of genetic testing. This information can be valuable for healthcare providers, researchers, and individuals seeking to better understand and manage conditions associated with the PSEN2 gene.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles on a wide range of health-related topics. In the context of the PSEN2 gene, there are several articles available that discuss the role of this gene in Alzheimer’s disease and dilated cardiomyopathy.

The PSEN2 gene, also known as the presenilin-2 gene, is associated with familial Alzheimer’s disease. This gene codes for a protein that plays a crucial role in the processing of beta-amyloid peptides, which are related to the formation of plaques in the brain that are characteristic of Alzheimer’s disease.

Studies have shown that mutations in the PSEN2 gene can lead to changes in the amino acid sequence of the protein it produces, resulting in the buildup of abnormal proteins. This can contribute to the development of Alzheimer’s disease.

In addition to its role in Alzheimer’s disease, the PSEN2 gene has also been linked to dilated cardiomyopathy, a genetic disorder that affects the heart muscle. Mutations in the PSEN2 gene can lead to abnormal protein folding and function in the heart, leading to the development of this disease.

PubMed provides a catalog of scientific articles on the topic of the PSEN2 gene and related conditions. It lists articles from various medical and scientific journals, allowing researchers and healthcare professionals to access up-to-date information on the latest research and findings.

PubMed is a valuable resource for genetic testing laboratories and clinicians who are involved in testing for mutations in the PSEN2 gene. The database provides access to information on genetic variants, associated diseases, and testing processes.

The PSEN2 gene is just one example of the many genes that have been implicated in various health conditions. PubMed offers a comprehensive collection of articles on genes and their roles in different diseases, making it an indispensable resource for researchers and healthcare providers.

For additional information on the PSEN2 gene and related diseases, researchers can also consult other databases such as OMIM (Online Mendelian Inheritance in Man) and various protein databases.

In conclusion, PubMed is an invaluable resource for accessing scientific articles on the PSEN2 gene and its role in Alzheimer’s disease and dilated cardiomyopathy. It provides a wealth of information for researchers, healthcare professionals, and anyone seeking to understand the genetic basis of these conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and diseases. It provides valuable information on various genetic disorders and their associated genes.

OMIM serves as a resource for scientists, healthcare professionals, and individuals interested in understanding the role of genes in health and disease. It contains a vast collection of articles and references from scientific journals, such as PubMed, providing credible and up-to-date information.

The catalog includes information on genes related to a wide range of diseases and disorders. For example, the PSEN2 gene, associated with familial Alzheimer’s disease, is listed in OMIM. OMIM also provides additional resources for those interested in genetic testing and the diagnostic process for various conditions, such as dilated cardiomyopathy.

OMIM provides details on the specific genetic changes and variants linked to each gene and disease. It includes data on amino acid changes, peptide names, and other molecular characteristics. OMIM also lists related genes and their roles in the disease process.

In addition to genes and diseases, OMIM offers information on genetic testing resources and registries. These resources help individuals and healthcare professionals access relevant tests and ensure accurate diagnosis and management of genetic disorders. OMIM also provides a registry of individuals with specific conditions, allowing for collaboration and further research.

Overall, OMIM is a valuable database for understanding the genetic basis of diseases and discovering new genes involved in various health conditions. Its extensive collection of articles and references provides a reliable source of information for scientists, healthcare professionals, and individuals seeking knowledge about genetics and health.

Gene and Variant Databases

There are several gene and variant databases that provide valuable genetic information related to the PSEN2 gene and its variant. These databases are essential resources for scientists, researchers, and healthcare professionals involved in studying and diagnosing diseases associated with this gene.

One of the most widely used databases is PubMed. PubMed is a vast online library of scientific articles and publications. It allows users to search for articles using specific keywords or terms, making it a valuable tool for finding published research studies on the PSEN2 gene variant and its role in diseases such as Alzheimer’s disease and familial dilated cardiomyopathy.

Another database that provides information on the PSEN2 gene variant is OMIM (Online Mendelian Inheritance in Man). OMIM is a comprehensive catalog of genetic conditions and the genes associated with them. It provides detailed information on the functions and characteristics of genes, including PSEN2, and their role in various disorders.

In addition to PubMed and OMIM, other genetic variant databases such as the Genetic Testing Registry (GTR) and the Catalog of Genetic Tests and Laboratories provide resources for testing and further understanding of the PSEN2 gene variant. These databases list the names of laboratories that offer genetic testing for PSEN2 and related genes, along with references to scientific articles and other publications that discuss the testing process and its implications.

It is important to note that the PSEN2 gene variant is closely related to the production of beta-amyloid proteins, which play a significant role in the development of Alzheimer’s disease and other amyloid disorders. The information available in these gene and variant databases can help researchers and healthcare professionals investigate the genetic changes and their impact on these diseases.

In summary, gene and variant databases such as PubMed, OMIM, GTR, and the Catalog of Genetic Tests and Laboratories provide valuable information on the PSEN2 gene variant and its involvement in various diseases. These resources are essential for researching, diagnosing, and understanding the scientific processes and implications related to this gene variant.

References

• Testing in Scientific Articles
• From PubMed: Articles on testing the PSEN2 gene for genetic changes related to familial Alzheimer’s disease and other conditions.Pubmed PSEN2 Articles
• From OMIM (Online Mendelian Inheritance in Man): Information on testing PSEN2 gene variants and their role in disease.OMIM PSEN2 Gene
• Other Related Genes and Proteins
• From Genes and Diseases: Catalog of changes and diseases related to genes such as PSEN2, amyloid beta, and other proteins.Genes and Diseases
• From PubMed: Articles on other genes and proteins involved in Alzheimer’s disease and related conditions.PubMed Amyloid Beta
• Additional Resources
• From the Alzheimer’s Disease Genetics Consortium: Registry of genetic testing and information on PSEN2 and other related genes.Alzheimer’s Disease Genetics Registry
• From the National Human Genome Research Institute: Information on genetic testing and resources for healthcare professionals and the general public.NHGRI