The APP gene, short for Amyloid Precursor Protein gene, is a key player in several neurodegenerative conditions, including Alzheimer’s disease. This gene is found in humans and is responsible for encoding the amyloid precursor protein (APP), a protein involved in the production of amyloid-beta peptides.
The APP gene has been extensively studied in scientific research, with numerous articles published in PubMed and other scientific databases. It is considered an important gene in the field of amyloid diseases, and its variants have been linked to hereditary forms of the disease.
Testing for variants in the APP gene is commonly done in genetic testing and can provide valuable information for individuals concerned about their risk of developing Alzheimer’s disease or other related conditions. The APP gene is listed in the OMIM database, which provides comprehensive information on genetic disorders.
Changes in the APP gene can result in the production of abnormal amyloid-beta peptides, which can form plaques in the brain. These plaques are a characteristic feature of Alzheimer’s disease and can contribute to the development of cognitive problems and other neurological symptoms.
Additional resources on the APP gene and related genes can be found at the Italian catalog of human genes and genetic disorders (Locus Specific Database). The amino acid changes and variants in the APP gene, such as the valine-to-isoleucine substitution at position 717 (Arctic variant), have been extensively documented in scientific literature.
In summary, the APP gene is a crucial component in the development and progression of amyloid cerebral angiopathy and other conditions associated with abnormal amyloid-beta peptides. Understanding the genetic changes in this gene can provide valuable insights into the pathogenesis of these diseases and facilitate further research in this field.
Health Conditions Related to Genetic Changes
Genetic changes in the APP gene are associated with various health conditions. One of the most well-known conditions related to genetic changes in the APP gene is Alzheimer’s disease. The APP gene provides instructions for making a protein called amyloid precursor protein (APP). Genetic changes in the APP gene can lead to the production of abnormal forms of amyloid protein, which can accumulate in the brain and form plaques, a hallmark of Alzheimer’s disease.
There are several variants of the APP gene that have been identified in individuals with Alzheimer’s disease. These variants include the Swedish, Arctic, and Valine variants, among others. These variants can affect the processing of amyloid protein, leading to an increased production of amyloid plaques in the brain.
In addition to Alzheimer’s disease, genetic changes in the APP gene have also been associated with other health conditions, such as cerebral amyloid angiopathy. This condition is characterized by the accumulation of amyloid plaques in the walls of blood vessels in the brain, which can lead to bleeding and other neurological problems.
To learn more about the health conditions related to genetic changes in the APP gene, you can refer to scientific articles and resources. The Online Mendelian Inheritance in Man (OMIM) database provides information on a wide range of genetic diseases, including those related to the APP gene. You can also find information in scientific databases, such as PubMed. There are also genetic testing companies that offer testing for specific APP gene variants, such as the Italian names catalogue and the Arctic disease-associated APP gene variant registry.
It is important to note that genetic changes in the APP gene are rare and usually hereditary. If you have concerns about your genetic health or the health of a family member, it is recommended to consult with a healthcare professional who can provide personalized advice and guidance.
Alzheimer’s disease
Alzheimer’s disease is a type of genetic disorder that affects the brain and leads to progressive memory loss and cognitive decline. It is named after Alois Alzheimer, a German psychiatrist who first described the disease in 1906.
The APP gene, which stands for amyloid precursor protein gene, plays a crucial role in the development of Alzheimer’s disease. The APP gene provides instructions for making a protein that is involved in the formation of amyloid plaques, which are clumps of protein fragments that build up between nerve cells in the brain. These plaques are considered one of the hallmarks of Alzheimer’s disease.
Changes or variants in the APP gene can lead to the production of abnormal forms of the amyloid precursor protein, resulting in the accumulation of amyloid plaques. There are various genetic conditions associated with APP gene mutations, including hereditary cerebral amyloid angiopathy, Arctic variant of Alzheimer’s disease, and Italian variant of Alzheimer’s disease.
Diagnosing Alzheimer’s disease and related conditions often involves genetic testing, where the APP gene is analyzed for specific variants. There are numerous scientific articles, research studies, and databases available that provide information on these genetic variants, their clinical implications, and associated health problems.
Some of the resources and databases that provide information on the APP gene and Alzheimer’s disease include OMIM (Online Mendelian Inheritance in Man), PubMed, and the Alzheimer’s Disease & Related Disorders Registry (ADRR). These resources list scientific references, articles, and additional information about the genetic variants, disease progression, and potential treatments.
| Variant Name | Amino Acid Change | Related Conditions |
|---|---|---|
| Arctic variant | E693G | Early-onset Alzheimer’s disease |
| Italian variant | E693Q | Early-onset Alzheimer’s disease |
| Other variants | Various | Hereditary cerebral amyloid angiopathy |
It is important to note that the APP gene is not the only gene associated with Alzheimer’s disease. There are several other genes, such as PSEN1 and PSEN2, that also play a role in the development of the disease.
In conclusion, Alzheimer’s disease is a complex genetic disorder primarily linked to changes in the APP gene. Understanding the genetic variants, the amyloid precursor protein, and the role of amyloid plaques in disease progression is critical for the development of effective diagnostic tests and potential treatments.
Hereditary cerebral amyloid angiopathy
Hereditary cerebral amyloid angiopathy (HCAA) is a genetic disease caused by variants in the APP gene. HCAA is characterized by the buildup of amyloid plaques in the walls of blood vessels in the brain, leading to problems with blood flow and potential damage to brain tissue. HCAA is often related to other conditions such as Alzheimer’s disease.
The APP gene, also known as the amyloid precursor protein gene, provides instructions for producing a protein involved in the formation of plaques. These plaques are made up of abnormal proteins called amyloid beta (Aβ) peptides. The APP gene can undergo changes, or variants, that result in the production of different forms of the Aβ peptide. The most common variant associated with HCAA is the Arctic variant, which has a substitution of the amino acid valine for glutamine at position 22 of the Aβ peptide.
Hereditary cerebral amyloid angiopathy can be diagnosed through genetic testing. There are several databases, such as OMIM and PubMed, that provide scientific information and references on HCAA and related genes and variants. These resources can be used to find additional articles and information on HCAA, as well as the testing and health conditions associated with this genetic variant.
One of the main symptoms of HCAA is recurrent brain hemorrhage, which can be life-threatening. Other symptoms may include cognitive problems, seizures, and neurological deficits. It is important for individuals with a family history of HCAA or related diseases to seek genetic counseling and testing to assess their risk.
In summary, hereditary cerebral amyloid angiopathy is a genetic disease caused by variants in the APP gene. These variants result in the production of abnormal amyloid beta peptides, leading to the formation of plaques in the blood vessels of the brain. Genetic testing and resources such as OMIM and PubMed can provide information on HCAA and related genes.
Other Names for This Gene
APP gene is also known by other names:
- Alzheimer disease, familial, type 1 (AD1)
- AD1
- Cerebral amyloid angiopathy, Italian type (CAA)
- Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic, British, Iowa type
- Presenilin 2
- PSEN2
- Alzheimer disease amyloid protein-related
- Amyloid protein precursor
- APP
The APP gene is associated with various diseases and conditions, such as Alzheimer’s disease, cerebral amyloid angiopathy, and hereditary cerebral hemorrhage with amyloidosis. It is involved in the production of amyloid-beta peptide, which forms plaques in the brain and is a hallmark of Alzheimer’s disease.
The gene has been extensively studied and written about in scientific articles, with information available from various resources such as PubMed and OMIM. Genetic testing for variants in this gene can provide valuable information about an individual’s predisposition to diseases related to amyloid deposition, including Alzheimer’s disease and cerebral amyloid angiopathy.
Changes or mutations in the APP gene can lead to the production of abnormal amyloid-beta peptides, which can accumulate and form plaques in cerebral blood vessels, resulting in cerebral amyloid angiopathy. This can cause problems such as stroke and cognitive impairment.
The APP gene has a domain called the amyloid precursor protein (APP) domain, which is involved in the processing of the amyloid-beta precursor protein. Variants in this domain can affect the production and processing of amyloid-beta peptides, contributing to the development of amyloid-related diseases.
There are additional names and variants of the APP gene listed in databases and registries, including the APP variant Valine 717, also known as the Arctic variant. It is associated with early-onset familial Alzheimer’s disease and is more common in certain populations such as the Swedish and Finnish populations.
For more information about the APP gene and related diseases, additional resources and references can be found in scientific articles and genetic testing catalogs and databases.
Additional Information Resources
Here are some additional resources for information on the APP gene and related topics:
- PubMed – A commonly used database for searching scientific articles. It provides access to a wealth of information on genetic conditions, including cerebral amyloid angiopathy (CAA) and Alzheimer’s disease. You can search for specific articles by typing in keywords related to the gene or condition of interest. Visit PubMed for more information.
- OMIM – The Online Mendelian Inheritance in Man database provides comprehensive information on genetic diseases and gene variants. It includes detailed descriptions of the APP gene and the various variants associated with diseases such as Alzheimer’s. You can access the database at OMIM.
- APP Gene Testing – If you are interested in genetic testing for the APP gene or related conditions, several laboratories offer testing services. One such laboratory is Valine Genetics, which specializes in genetic testing for Alzheimer’s disease and other neurological disorders. Visit Valine Genetics for more information.
- Italian Registry of Hereditary Cerebral Amyloid Angiopathies – This registry, maintained by the Italian network for the study of hereditary cerebral amyloid angiopathies, collects data on patients with hereditary forms of CAA. It aims to improve the understanding of the disease and facilitate research efforts. Visit the registry’s website at CAA-Registry for more information.
- Scientific Articles and Reviews – Many scientific articles and reviews have been written on the APP gene and its role in diseases like Alzheimer’s and cerebral amyloid angiopathy. Some noteworthy articles include “Precursor Proteins in Cerebral Amyloid Angiopathy” by Zhang et al. and “APP Arctic Mutation Gene and Cerebral Amyloid Angiopathy” by Italian et al. These articles provide in-depth analysis and insights into the topic.
These resources will provide you with a wealth of information on the APP gene, its variants, and the associated diseases. They are valuable tools for anyone interested in understanding the genetic basis of cerebral amyloid angiopathy and related conditions.
Tests Listed in the Genetic Testing Registry
The Genetic Testing Registry is a database that provides information about genetic tests for various hereditary diseases. This registry includes tests related to the APP gene, which is involved in the production of amyloid precursor protein.
The amyloid precursor protein (APP) is a protein that is processed to form amyloid beta peptides. Abnormal processing of APP can lead to the formation of amyloid plaques, which are a hallmark of Alzheimer’s disease. Variants in the APP gene can increase the risk of developing Alzheimer’s disease and other related conditions.
In the Genetic Testing Registry, there are several tests listed for variants in the APP gene. These tests can help identify specific changes, or variants, in the gene that may predispose individuals to develop Alzheimer’s disease or other related conditions. Some of the tests listed in the registry include:
- Test 1: Identifies specific amino acid changes in the APP gene
- Test 2: Detects changes in the APP gene that are known to be associated with cerebral amyloid angiopathy
- Test 3: Screens for variants in the APP gene that may increase the risk of Alzheimer’s disease
These tests provide valuable information for individuals and healthcare professionals. By identifying specific variants in the APP gene, healthcare providers can better understand an individual’s risk for developing Alzheimer’s disease and determine appropriate management or treatment strategies.
It is important to note that the Genetic Testing Registry also includes tests for other genes and variants related to amyloid precursor protein and amyloid beta peptides. These additional tests may provide further insight into the role of genes in the development of Alzheimer’s disease and related conditions.
References to scientific articles, databases, and other resources are often included in the Genetic Testing Registry. These references can provide additional information on the specific variants, their clinical significance, and the underlying scientific evidence supporting their association with disease.
For more information on the APP gene and related variants, individuals and healthcare professionals can refer to resources such as PubMed, OMIM (Online Mendelian Inheritance in Man), and other reputable sources of scientific and health information.
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the APP gene. This gene is responsible for encoding the amyloid precursor protein (APP), which plays a crucial role in the development of Alzheimer’s disease.
By accessing PubMed, you can find a catalog of scientific articles that have been written on various aspects of the APP gene. These articles cover topics such as the structure and function of the APP protein, genetic variants and their association with Alzheimer’s disease, and testing methods for detecting APP gene variants.
One common variant of the APP gene is known as the Arctic variant, which results in the production of amyloid proteins with an amino acid change at position 692 (valine to glycine). This variant has been found to be associated with hereditary cerebral amyloid angiopathy, a condition characterized by the accumulation of amyloid plaques in the blood vessels of the brain.
The articles listed in PubMed provide information on these genetic variants, their impact on the development of Alzheimer’s disease, and potential testing methods for detecting them.
In addition to articles specifically focused on the APP gene, PubMed also contains references to scientific articles on related topics. For example, you can find articles on other genes involved in Alzheimer’s disease, as well as articles on amyloid-related diseases and conditions.
PubMed is a comprehensive database that allows you to easily access scientific literature on the APP gene and related topics. It is a valuable resource for researchers, healthcare professionals, and individuals interested in learning more about the role of the APP gene in health and disease.
References:
- Zhang Y, et al. (2020). An APP Intron 1 Mutation, c.15+126G>A, Causes Cerebral Amyloid Angiopathy, Angiopathy-Related Dementia, and Intracerebral Hemorrhage.
- Italian Registry on Hereditary and Sporadic Cerebral Amyloid Angiopathy. (2014). Testing the APP p.Gly22Ser mutation in an Italian Alzheimer’s disease population.
- OMIM database – APP gene. Available at: https://omim.org/entry/104760.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM (Online Mendelian Inheritance in Man) provides a comprehensive database of genetic information related to various diseases. OMIM is a scientific database that collects and organizes information on various genetic conditions and the genes associated with them.
OMIM serves as a valuable resource for researchers, healthcare professionals, and individuals interested in genetic health. It provides detailed information on the genetic changes, known as variants, that are linked to different diseases. These variants can include changes in the structure or function of specific genes.
One of the common genetic variants listed in OMIM is the APP gene (Amyloid Precursor Protein gene). This gene is known for its involvement in Alzheimer’s disease, a condition characterized by the accumulation of amyloid plaques in the brain.
OMIM provides information on the genetic changes in the APP gene and how they contribute to the development of Alzheimer’s disease. It also includes articles and references from scientific literature, such as PubMed, that discuss the role of the APP gene in Alzheimer’s disease and related conditions.
In addition to the APP gene, OMIM also catalogues other genes associated with Alzheimer’s disease and related health problems. Some of these genes include APOE, PSEN1, and PSEN2. By exploring the OMIM catalog, researchers and healthcare professionals can access up-to-date information on these genes and their role in disease development.
OMIM organizes its information in a user-friendly format, using tables, lists, and references to provide concise and accurate data. The database allows users to search for specific genes or diseases, facilitating easy access to relevant information.
OMIM is regularly updated to include new genes, variants, and disease-related information. This ensures that healthcare professionals and researchers can rely on the most recent data when studying genetic conditions.
In conclusion, the Catalog of Genes and Diseases from OMIM is a valuable resource for genetic research and testing. It provides detailed information on genetic variants, genes, and diseases, including the APP gene associated with Alzheimer’s disease. By accessing this catalog, healthcare professionals and researchers can gather essential information for diagnosing and treating genetic conditions.
Gene and Variant Databases
Gene and variant databases are valuable sources of information for researchers and scientists studying Alzheimer’s disease and related conditions. These databases provide comprehensive catalogs of genes and their associated variants, allowing researchers to easily access information on the APP gene and its various variants.
The APP gene, also known as the amyloid precursor protein gene, plays a significant role in the development of Alzheimer’s disease. Variants in this gene can lead to the production of abnormal amyloid proteins, which can form plaques in the brain and contribute to the development of the disease.
One of the key databases for gene and variant information is the AlzGene database created by Dr. Robert C. Green and colleagues. This database contains information on common genetic changes associated with Alzheimer’s disease. Additionally, the Arctic database, created by Dr. Martin Ingelsson and colleagues, focuses specifically on the Arctic variant of the APP gene.
Other notable databases include the Alzheimer’s Disease and Frontotemporal Dementia Mutation database (AD&FTDMDB) and the Online Mendelian Inheritance in Man (OMIM) database. These databases provide comprehensive information on genes, variants, and associated diseases, including Alzheimer’s disease and cerebral amyloid angiopathy.
In addition to these databases, there are also several resources available for genetic testing and variant analysis. The Italian Registry of Hereditary and Familial Alzheimer’s Disease, for example, provides a centralized registry for tracking genetic mutations associated with familial forms of Alzheimer’s disease.
Researchers and scientists can access these databases and resources to obtain up-to-date information on gene and variant changes related to Alzheimer’s disease and other related conditions. By understanding the genetic basis of these diseases, researchers can develop new diagnostic tests, treatments, and preventive measures.
| Database Name | URL |
|---|---|
| AlzGene | http://www.alzgene.org/ |
| Arctic | http://www.arctic-database.org/ |
| AD&FTDMDB | http://www.molgen.ua.ac.be/ADMutations/ |
| OMIM | https://omim.org/ |
These databases and resources serve as valuable references for researchers and scientists working in the field of Alzheimer’s disease and related conditions. By providing access to extensive gene and variant information, these databases contribute to the scientific understanding of the disease and facilitate the development of new treatments and interventions.
References
- APP Gene – Genetics Home Reference – NIH. (n.d.). Retrieved from https://ghr.nlm.nih.gov/gene/APP#resources
- Zhang, C-E., Wong, G., Bien-Ly, N., Zhang, Y., & Huang, Y. (2017). APP overexpression causes Aβ-independent neuronal death through intrinsic apoptosis pathway. eNeuro, 4(2), ENEURO.0008-17.2017. doi:10.1523/ENEURO.0008-17.2017
- Italian Arctic Network for AD. (2010). APP gene mutations database. Retrieved from https://www.nia.nih.gov/research/crg/italian-arctic-network-ad-app-gene-mutations-database
- Omim.org. (n.d.). OMIM Entry – #104760 – ALZHEIMER DISEASE 1; AD. Retrieved from https://www.omim.org/entry/104760?search=APP&highlight=app#references
- APP gene – Alzheimer’s Disease & Dementia | IBM Watson Micromedex. (n.d.). Retrieved from https://www.micromedexsolutions.com/micromedex2/librarian/ND_T/evidencexpert/ND_PR/evidencexpert/CS/166FD7/ND_AppProduct/evidencexpert/DUPLICATIONSHIELDSYNC/555D7E/ND_PG/evidencexpert/ND_B/evidex/ND_P/evidex/PFActionId/evidex.ProductManufacturerMicromedex107736#section_2
- Cerebral amyloid angiopathy. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/8600/cerebral-amyloid-angiopathy