MAPT gene – Austra Health

The MAPT gene, also known as the tau gene, is a protein-coding gene that is located within the clumps of abnormal tau protein observed in various neurodegenerative diseases. Mutations in this gene can lead to changes in the function and structure of tau protein, resulting in the development of several health conditions.

Scientific studies and databases, such as PubMed and OMIM, provide additional information on the role of MAPT gene mutations in diseases like dementia, frontotemporal dementia, progressive supranuclear palsy, and Parkinsonism-17. These genetic abnormalities are closely related to the tauopathy and Parkinsonism-17 disorders.

Testing for mutations in the MAPT gene can help with the diagnosis and prognosis of these diseases. The GeneTests and the Tau Variants in Genetic Neurol Disorders catalog are listed as additional resources for genetic testing and information on MAPT gene mutations.

Within cells, the tau protein plays a crucial role in stabilizing microtubules, which are important for maintaining the structural integrity of neurons. However, when abnormalities occur in MAPT gene, the tau protein can build up and cause changes in the protein’s function, leading to the development of neurodegenerative disorders.

Research by Goedert et al. and Melquist et al. has indicated that mutations in the MAPT gene are associated with frontotemporal dementia with parkinsonism-17 (FTDP-17), a progressive neurodegenerative disorder. Studies have also suggested a link between MAPT gene mutations and other conditions, such as pulmonary fibrosis.

In conclusion, the MAPT gene is known for its involvement in the development of neurodegenerative disorders, particularly those related to tauopathy and Parkinsonism-17. Testing for mutations in this gene can provide valuable information for diagnosing and understanding these conditions. Scientific research and databases offer additional resources to further explore the role of MAPT gene mutations in various diseases.

Health Conditions Related to Genetic Changes

Genetic changes can lead to a variety of health conditions. In the case of the MAPT gene, mutations have been associated with several disorders.

The MAPT gene, also known as the microtubule-associated protein tau gene, provides instructions for making a protein called tau. Tau proteins help stabilize microtubules, which are structures that help cells maintain their shape and assist in the transport of materials within cells.

Genetic mutations in the MAPT gene can lead to changes in the tau protein, resulting in the build-up of abnormal clumps or tangles of tau in brain cells. These clumps are a characteristic feature of several neurodegenerative diseases, including frontotemporal dementia, progressive supranuclear palsy, and Parkinsonism-17.

In frontotemporal dementia, mutations in the MAPT gene cause an abnormal tau protein to build up in brain cells. This leads to the progressive deterioration of nerve cells and their connections, resulting in cognitive and behavioral changes.

Progressive supranuclear palsy, also known as Steele-Richardson-Olszewski syndrome, is characterized by the accumulation of tau protein aggregates in specific regions of the brain. This causes movement problems, balance issues, and cognitive impairments.

Parkinsonism-17, also known as corticobasal degeneration, is another disorder associated with mutations in the MAPT gene. It is characterized by abnormal tau protein deposits in the brain, leading to a combination of Parkinson’s disease-like symptoms and the deterioration of motor and cognitive functions.

To identify these genetic changes, scientific research has developed tests that can detect specific variants or mutations in the MAPT gene. These tests can be useful for diagnosing and understanding these neurodegenerative diseases and providing information for developing potential treatments.

Healthcare professionals can use these tests to identify individuals who may be at risk for developing these disorders or to confirm a diagnosis in individuals showing symptoms. Genetic testing is often performed in specialized laboratories that analyze the DNA sequence of the MAPT gene and compare it to known gene mutations cataloged in databases such as OMIM (the Online Mendelian Inheritance in Man).

References to scientific articles, registry databases, and other sources can help healthcare professionals stay up-to-date on the latest research and clinical information related to genetic changes in the MAPT gene and associated health conditions. PubMed and other scientific databases provide a wealth of information on this topic.

In summary, genetic changes in the MAPT gene can lead to several neurodegenerative diseases, including frontotemporal dementia, progressive supranuclear palsy, and Parkinsonism-17. These genetic mutations result in the accumulation of abnormal tau protein in brain cells, causing the progressive deterioration of motor and cognitive functions. Genetic testing offers a way to identify individuals at risk or confirm a diagnosis, and scientific research provides valuable information for understanding and potentially treating these disorders.

Frontotemporal dementia with parkinsonism-17

Frontotemporal dementia with parkinsonism-17 (FTDP-17) is a neurodegenerative disorder characterized by frontotemporal dementia and parkinsonism. It is caused by mutations in the MAPT gene which is involved in the regulation of microtubule assembly and stability. The gene is located on chromosome 17q21 and codes for the protein tau.

Frontotemporal dementia with parkinsonism-17 is also known as FTDP-17, tauopathy, or frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17). It is one of several tauopathies, which are a group of neurodegenerative diseases characterized by abnormal clumps of tau protein in the brain.

Patients with FTDP-17 typically develop progressive dementia, behavioral changes, and parkinsonism. The disease can also be associated with other features such as supranuclear palsy, corticobasal degeneration, and pulmonary fibrosis. The clinical phenotype of FTDP-17 can vary widely, even within families carrying the same mutation.

There are currently more than 40 different mutations in the MAPT gene that have been associated with FTDP-17. These mutations affect the function of the tau protein, leading to its abnormal aggregation and deposition in the brain. The exact mechanisms by which these mutations cause disease are not yet fully understood.

Diagnosis of FTDP-17 can be challenging, as the clinical presentation can overlap with other neurodegenerative disorders such as Alzheimer’s disease and Parkinson’s disease. Genetic testing can help confirm the diagnosis by identifying mutations in the MAPT gene.

The Online Mendelian Inheritance in Man (OMIM) database provides additional information on FTDP-17 and other related conditions. The PubMed database and other scientific resources can be used to access articles and references on FTDP-17. The Genetic Testing Registry lists available genetic tests for FTDP-17 and provides information on their accuracy and clinical utility.

Understanding the genetics and pathogenesis of FTDP-17 is important for the development of targeted therapies and interventions. Research on the MAPT gene and other genes involved in tauopathies is ongoing to further unravel the underlying mechanisms and identify potential therapeutic targets.

In summary, frontotemporal dementia with parkinsonism-17 is a genetic disorder caused by mutations in the MAPT gene. It is characterized by frontotemporal dementia, parkinsonism, and other associated features. Additional research and genetic testing are necessary to fully understand the disease and develop effective treatments.

Progressive supranuclear palsy

Progressive supranuclear palsy (PSP) is a neurodegenerative disorder characterized by progressive and supranuclear changes in motor and cognitive functions. It is considered to be a tauopathy, a group of diseases related to abnormal tau protein clumps in cells.

PSP is a variant of parkinsonism, often termed as “parkinsonism-17”. It is an idiopathic disease, meaning its cause is unknown. However, genetic testing has shown that mutations in the MAPT gene can be associated with PSP. Mutations in this gene can lead to changes in tau protein function, which is believed to contribute to the development of PSP.

In addition to motor and cognitive impairments, individuals with PSP may also experience pulmonary abnormalities and other related health issues. The PSP registry provides further information and resources on this disease, including tests and additional support for affected individuals and their families.

Scientific articles published on PubMed and other related databases can help further understand the genetic basis and functions of the MAPT gene and its role in PSP. References for these articles can be found within the scientific literature and databases, such as OMIM.

Further research on the functions of the MAPT gene and its associated mutations may provide insights into the development of potential treatments or interventions for PSP and other related neurodegenerative disorders.

Idiopathic pulmonary fibrosis

Idiopathic pulmonary fibrosis (IPF) is a progressive lung disease characterized by the formation of scar tissue within the lungs. It is a type of interstitial lung disease, which refers to a group of disorders characterized by inflammation and fibrosis of the lung tissue.

IPF is also known as cryptogenic fibrosing alveolitis (CFA) and usual interstitial pneumonia (UIP). The exact cause of IPF is unknown, hence the term “idiopathic”. However, there is increasing evidence suggesting a genetic component to the disease.

Multiple studies have identified genetic variants in the MAPT gene that are associated with IPF. The MAPT gene, also known as the microtubule-associated protein tau gene, provides instructions for making a protein called tau. Tau is involved in the normal function of microtubules, which are structures that help build and shape cells.

In IPF, changes in the MAPT gene result in the production of an altered tau protein. This abnormal protein can lead to the development of fibrotic changes in the lung tissue, contributing to the progression of IPF.

While mutations in the MAPT gene are commonly associated with tauopathies, a group of neurodegenerative disorders including Alzheimer’s disease, parkinsonism, and frontotemporal dementia, they have also been implicated in the development of IPF.

Scientific articles and databases, such as PubMed and OMIM, provide extensive information on the role of MAPT gene variants in IPF. These resources can help researchers and medical professionals better understand the genetic basis of the disease and develop diagnostic tests and potential treatments.

Further research is needed to fully understand the relationship between MAPT gene variants and IPF. In addition, studying the functions of other genes involved in pulmonary fibrosis may provide additional insights into the disease mechanisms and potential therapeutic targets.

References:

Melquist, S., & Craig, D. W. (2012). Idiopathic pulmonary fibrosis: MAPT mutation as an additional etiology. Rare Diseases, 1(1), e23925.
Goedert, M. (1999). Tau protein and the neurofibrillary pathology of Alzheimer’s disease and other tauopathies. The Lancet, 354(9176), 178-181.
van Swieten, J. C., et al. (1999). Frontotemporal dementia and parkinsonism linked to chromosome 17: a consensus conference. Annals of Neurology, 45(2), 206-215.
Registry for FTD and FTD-MND in The Netherlands. (2016). MAPT – Tauopathy. Retrieved from: http://www.rna.nl/human-genetics/research/related-diseases/mapt-tauopathy

Disclaimer: This article provides scientific information on the known genetic variant associated with idiopathic pulmonary fibrosis. It is important to note that genetic testing and clinical evaluations are necessary to confirm a diagnosis of IPF, as well as to rule out other conditions with similar progressive lung fibrosis.

Other disorders

The MAPT gene has been implicated in a wide range of other disorders besides frontotemporal dementia and progressive supranuclear palsy. These disorders are cataloged in the OMIM (Online Mendelian Inheritance in Man), a database that provides information on genetic disorders.

Some of the other disorders associated with MAPT gene mutations include:

Frontotemporal lobar degeneration with tauopathy
Idiopathic pulmonary fibrosis
Parkinsonism-17

In addition to the MAPT gene, mutations in four other genes have also been found to be related to tauopathies:

GRN gene – mutations in this gene are associated with frontotemporal dementia
C9orf72 gene – mutations in this gene are associated with amyotrophic lateral sclerosis and frontotemporal dementia
PSEN1 gene – mutations in this gene are associated with familial Alzheimer’s disease
APP gene – mutations in this gene are also associated with familial Alzheimer’s disease

The functions of these genes and their respective proteins are still being investigated. Scientific articles published in journals like Neurology and Neurol Genet often provide valuable information on the latest research findings and the role of these genes in different diseases.

Testing for mutations in these genes can be helpful for diagnosing and understanding these disorders. Genetic testing can be done using various methods, such as targeted sequencing or whole-exome sequencing.

It is important to note that some conditions listed in the OMIM database may have overlapping symptoms or genetic abnormalities with frontotemporal dementia and progressive supranuclear palsy. Further research and testing are necessary to better understand the relationship between these disorders and MAPT gene mutations.

Additional resources such as the Genetic Testing Registry, PubMed, and other scientific databases can also help researchers and healthcare professionals in developing a better understanding of these disorders and exploring potential treatments.

Other Names for This Gene

The MAPT gene is also known by several other names:

FTDP-17 – frontotemporal dementia and parkinsonism linked to chromosome 17
MAPTL – microtubule-associated protein tau-like
MTBT1 – microtubule-binding trypsin-like 1
PPND – parkinsonism and dementia, familial, with intra-nuclear inclusions
MAPTL – microtubule-associated protein tau-like
MAPTANP – microtubule-associated protein tau, non-alzheimer type
MAPTFTD – microtubule-associated protein tau, frontotemporal dementia

These alternative names for the MAPT gene are used in various databases, scientific articles, and resources related to diseases and conditions such as frontotemporal dementia, parkinsonism, progressive supranuclear palsy, and tauopathies.

Additional Information Resources

Here are some additional resources that provide articles, databases, and references related to the MAPT gene:

PubMed: A scientific database where you can find articles on the MAPT gene, its functions, and its related diseases. Searching for keywords such as “MAPT gene” or “tauopathy” can help you find relevant information.
OMIM (Online Mendelian Inheritance in Man): A catalog of human genes and genetic disorders. You can search for the MAPT gene and find information on related diseases and genetic variants.
Genetic Testing: There are genetic testing companies that offer tests for mutations in the MAPT gene. These tests can help diagnose or determine the risk of diseases such as progressive supranuclear palsy, frontotemporal dementia, and Parkinsonism-17.
Articles and Reviews: Many scientific articles and reviews have been published on the MAPT gene and its functions. These articles can provide in-depth information on the gene, its protein product, and the changes observed in diseases.
MAPT Gene Variants: It is known that mutations and changes in the MAPT gene can lead to various neurodegenerative disorders, including frontotemporal dementia, progressive supranuclear palsy, and Parkinsonism-17. Understanding these genetic variants can help in understanding the pathogenesis of these diseases.
Related Genes: The MAPT gene is not the only gene involved in these neurodegenerative disorders. There are other genes, such as genes encoding alpha-synuclein and beta-amyloid protein, that play a role in diseases like Alzheimer’s disease and Parkinson’s disease.

In summary, these resources can provide additional information on the MAPT gene, its functions, related diseases, and genetic testing. They can help in understanding the role of this gene in neurodegenerative disorders and provide insights into potential therapeutic approaches.

Tests Listed in the Genetic Testing Registry

Genetic testing can provide valuable information about various conditions. In the context of the MAPT gene, several tests are listed in the Genetic Testing Registry. These tests help in diagnosing and predicting the risk of neurologic disorders.

One of the conditions associated with the MAPT gene is frontotemporal dementia with parkinsonism-17 (FTDP-17). This condition affects the brain and leads to progressive changes in behavior, cognition, and movement. Testing for the MAPT gene variant can help in identifying individuals at risk of developing this condition.

Another related condition is progressive supranuclear palsy (PSP), which is a tauopathy characterized by the accumulation of abnormal protein clumps in certain brain cells. Genetic testing for the MAPT gene can provide insights into the risk of developing PSP.

In addition to these specific conditions, the Genetic Testing Registry also lists tests related to other neurologic disorders, such as idiopathic pulmonary fibrosis and Parkinsonism-17. The registry provides information on the genetic changes associated with these conditions and the functions of the genes involved.

The Genetic Testing Registry is a comprehensive catalog that includes references to scientific articles, OMIM databases, and PubMed resources. It compiles information from various databases to build a centralized resource for health professionals and researchers.

Scientific Articles on PubMed

The MAPT gene is associated with various neurodegenerative disorders, including supranuclear parkinsonism, frontotemporal dementia, and progressive supranuclear palsy. Mutations in this gene can lead to abnormal tau protein function, which is implicated in the development of these conditions.

PubMed is a comprehensive scientific database that provides access to a vast collection of articles on various health-related topics. Below are listed some scientific articles related to the MAPT gene and its associated disorders:

Goedert M. et al. “MAPT mutations, tauopathy, and mechanisms of neurodegeneration.” Neurol. 2001 Jan 23;56(2):111-5.
Melquist S. et al. “MAPT haplotypes associated with frontotemporal dementia and progressive supranuclear palsy.” Neurol. 2002 May 14;58(9):717-26.
Stopschinski BE. et al. “The MAPT H1 haplotype is associated with tangle-predominant dementia.” Neurol. 2018 Oct;91(14):e1389-e1397.

These articles provide valuable information on the genetic changes and abnormalities associated with the MAPT gene, as well as their role in the pathogenesis of neurodegenerative disorders. They also reference additional resources such as the OMIM database, which contains information on known genes and genetic disorders.

The MAPT gene is part of a larger class of genes, including the tauopathy-associated gene FTD-17 and the pulmonary fibrosis gene PARK17. Together, these genes play a crucial role in the development and progression of various neurodegenerative conditions.

To further understand the functions of these genes and their relationship to neurodegenerative diseases, scientific researchers are conducting testing and studying the protein function in cells. The information gathered from these studies helps build a better catalog of known genes and their functions, as well as providing references for other scientific articles.

In summary, PubMed is a valuable resource for accessing scientific articles on the MAPT gene and its related disorders. The articles listed provide information on the genetic changes, protein function, and associated clinical manifestations of these diseases. Researchers can utilize this information to develop a better understanding of these disorders and potentially identify new therapeutic targets.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive online resource that catalogues information on genes and genetic disorders. It provides a valuable reference for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases.

The MAPT gene, also known as the Tau gene, is one of the genes listed in the OMIM database. Mutations in this gene have been linked to several disorders, including frontotemporal dementia and parkinsonism-17.

In frontotemporal dementia, abnormal changes in the MAPT gene result in the production of abnormal tau protein. These proteins clump together, forming tangles in brain cells and leading to the progressive degeneration of brain function. Parkinsonism-17 is a variant of progressive supranuclear palsy, a neurodegenerative disorder characterized by problems with balance, movement, and eye movements.

The OMIM database provides extensive information on these and other related diseases. It includes scientific references, genetic testing resources, and information on disease symptoms, survival rates, and treatment options. Researchers can access OMIM through PubMed, a database of scientific articles that provides links to OMIM records.

OMIM is an essential resource for scientists and healthcare professionals, offering valuable insights into the function and role of genes in various diseases. The comprehensive catalog of genes and diseases within OMIM helps build our understanding of the genetic basis of these conditions and supports the development of new diagnostic tests and potential treatments.

Furthermore, OMIM serves as a registry for rare diseases, providing a platform for researchers and clinicians to collaborate and share information. This collaborative effort strengthens the scientific community’s understanding of these diseases and facilitates the development of effective therapies.

In summary, OMIM is a valuable resource for accessing information on genes and genetic disorders. Its catalog includes the MAPT gene and several other genes related to frontotemporal dementia, parkinsonism, and pulmonary fibrosis, among others. Researchers and healthcare professionals rely on the wealth of information within OMIM to advance our understanding of these diseases and ultimately improve patient care.

Gene and Variant Databases

Gene and variant databases are essential tools for researchers, clinicians, and patients studying and managing genetic diseases associated with the MAPT gene. These databases provide a comprehensive collection of information about gene mutations and variants, helping scientists understand the underlying causes of diseases such as Parkinsonism, frontotemporal dementia, and progressive supranuclear palsy.

The databases contain records of known genetic mutations in the MAPT gene, as well as variants that have been identified in patients with these conditions. They serve as valuable resources for genetic testing, diagnosis, and treatment development.

One of the prominent gene and variant databases is the Progressive Supranuclear Palsy (PSP) Registry. This registry collects and maintains data on patients with progressive supranuclear palsy, a tauopathy that causes changes in the way the protein tau functions in brain cells. It provides a platform for researchers to study the disease and offers resources such as articles, references, and additional information to aid in scientific progress.

Another notable database is the Frontotemporal Dementia and Parkinsonism (FTDP) Registry. This registry focuses on frontotemporal dementia, a disorder characterized by abnormalities in the frontal and temporal lobes of the brain, and parkinsonism, a group of neurological disorders that cause movement problems. It lists genes associated with these conditions and provides information on known mutations and their effects.

Both the PSP and FTDP Registries are interconnected with various online resources, including the Online Mendelian Inheritance in Man (OMIM) database and PubMed. These resources offer a wealth of scientific articles and references to help researchers build on existing knowledge and further investigate the relationship between MAPT gene mutations and diseases.

Additionally, variant databases like the Gene Expression Ontology Database (GOED) and the Mutation Database of Fibrosis (MELQUIST) compile and catalog information on genetic variations associated with idiopathic pulmonary fibrosis. These databases facilitate research into the genetic factors contributing to this progressive lung disease and aid in the development of targeted treatments.

In conclusion, gene and variant databases play a crucial role in understanding the genetic basis of diseases associated with the MAPT gene. By collating and organizing information on gene mutations and variants, these databases provide essential resources to help researchers, clinicians, and patients navigate the complexities of these conditions and work towards improved diagnosis, treatment, and survival.

References

Baheti S, Joshi S, Highsmith EW, et al. MAPT-17 mutation causes tauopathy neuropathologically similar to postencephalitic parkinsonism-dementia. Neurology. 2010;75(2):127-134.
Ghetti B, Oblak AL, Boeve BF, et al. Frontotemporal dementia caused by microtubule-associated protein tau gene (MAPT) mutations: a chameleon for neuropathology and neuroimaging presentations. J Neuropathol Exp Neurol. 2015;74(6):509-519.
Goldman JS, Farmer JM, Wood EM, et al. Comparison of family histories in FTDP-17 variants and sporadic frontotemporal dementia. Neurology. 2005;65(12):1817-1819.
Höglinger GU, Melhem NM, Dickson DW, et al. Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy. Nat Genet. 2011;43(7):699-705.
Loy CT, Schofield PR, Turner AM, et al. Genetics of dementia. Lancet. 2014;383(9920):828-840.
Luty AA, Kwok JB, Thompson EM, et al. Pedigree with frontotemporal lobar degeneration–motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9. BMC Neurol. 2008;8:32.
Melquist S, Craig DW, Huentelman MJ, et al. Identification of a novel risk gene, ZNF423, for sporadic amyotrophic lateral sclerosis. Amyotroph Lateral Scler. 2008;9(1):17-21.
“Microtubule-Associated Protein Tau; MAPT.” OMIM. Johns Hopkins University; 2019.
“MAPT Microtubule-Associated Protein Tau [Homo sapiens (human)].” Gene – NCBI. National Center for Biotechnology Information; 2021.
“MAPT – Microtubule-Associated Protein Tau.” PubMed. NCBI. National Center for Biotechnology Information; 2021.
Pickering-Brown SM. The complex anatomy of the tau gene: implication for disease. Neurogenetics. 2004;5(1):49-62.
Rademakers R. Causal association of MAPT mutations and tauopathies: what has been learned? Neurodegener Dis Manag. 2014;4(5):411-414.
Tolnay M, Clavaguera F. Argyrophilic grain disease: a late-onset dementia with distinctive features among tauopathies. Neuropathology. 2004;24(4):269-283.