DNMT1 (DNA methyltransferase 1) is a gene that encodes an enzyme called DNA methyltransferase 1. This enzyme plays a crucial role in DNA methylation, which is a process that regulates gene expression by adding a methyl group to the DNA molecule. The DNMT1 gene is primarily expressed in the cerebellar region of the brain and is involved in various cellular processes.

Changes in the DNMT1 gene can cause a range of conditions, including cerebellar ataxia, hereditary neuropathy, Charcot-Marie-Tooth disease, and autonomic dysfunction. These conditions are typically characterized by signs and symptoms such as cognitive decline, motor abnormalities, and autonomic dysfunction.

Testing for changes in the DNMT1 gene can be done through genetic testing, which involves sequencing the DNA to identify any variants or changes in the gene sequence. Additional tests, such as biochemical assays and functional studies, may also be performed to understand the impact of these changes on the enzyme’s function.

There are other methyltransferases encoded by specific genes, such as DNMT3B. These enzymes, along with DNMT1, are responsible for establishing and maintaining DNA methylation patterns in the genome. Changes in these genes have been associated with various cancers, neurodevelopmental disorders, and other genetic conditions.

The DNMT1 gene is listed in various genetic databases and resources, including OMIM (Online Mendelian Inheritance in Man) and the Autonomic Disorders Consortium registry. References to the DNMT1 gene can be found in scientific publications and databases like PubMed, which catalog the latest research findings on this gene and its associated conditions.

In conclusion, the DNMT1 gene plays a crucial role in regulating gene expression through DNA methylation. Changes in this gene have been associated with a variety of conditions, including cerebellar ataxia, hereditary neuropathy, and autonomic dysfunction. Genetic testing and sequence analysis can help identify these changes, providing valuable information for diagnosis and treatment of associated conditions.

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Health Conditions Related to Genetic Changes

Genetic changes in the DNMT1 gene can lead to various health conditions. DNMT1 is responsible for encoding an enzyme called DNA methyltransferase 1, which plays a crucial role in DNA methylation. DNA methylation is a process that regulates gene expression and is essential for normal cellular function.

Some of the health conditions related to genetic changes in the DNMT1 gene include:

• Hereditary Sensory and Autonomic Neuropathy Type 1E (HSAN1E): This is an autosomal dominant disorder characterized by sensory and autonomic neuropathy. Mutations in the DNMT1 gene can cause this condition, leading to progressive decline in sensory and autonomic functions.
• Autosomal Dominant Cerebellar Ataxia, Deafness, and Narcolepsy (ADCA-DN): This condition is characterized by cerebellar ataxia, deafness, and narcolepsy. It is caused by genetic changes in the DNMT1 gene, leading to impaired neuronal function in the cerebellum.
• Autosomal Dominant Cerebellar Ataxia, Deafness, and Congenital Hojo-Okada-type Palmoplantar Keratoderma Syndrome (ADCA-DN-HOJA): This is a rare condition characterized by cerebellar ataxia, deafness, and congenital hojo-okada-type palmoplantar keratoderma. Mutations in the DNMT1 gene can cause this syndrome.

In addition to these specific conditions, genetic changes in the DNMT1 gene may also be associated with an increased risk of developing certain cancers. The DNMT1 enzyme plays a role in regulating DNA methylation patterns, and disruptions in this process can lead to abnormal gene expression and potentially contribute to the development of cancer.

Testing for genetic changes in the DNMT1 gene can be done through various genetic testing resources such as scientific databases like OMIM and PubMed. These databases provide valuable information on genetic variants and associated diseases. Additionally, specific genetic tests targeting the DNMT1 gene may be available for diagnosing and detecting mutations.

It is important to note that genetic changes in the DNMT1 gene are just one of many possible causes for the health conditions listed above. Other genes and environmental factors may also play a role in the development of these diseases.

In conclusion, genetic changes in the DNMT1 gene can result in various health conditions, including sensory and autonomic neuropathy, cerebellar ataxia, deafness, narcolepsy, and certain cancers. Genetic testing and scientific resources can help in diagnosing and understanding these conditions.

Autosomal dominant cerebellar ataxia deafness and narcolepsy

Autosomal dominant cerebellar ataxia deafness and narcolepsy, also known as ADCADN, is a rare genetic condition that is characterized by the progressive decline of cognitive and sensory functions such as hearing and balance, as well as the presence of narcolepsy, a sleep disorder characterized by excessive daytime sleepiness.

This condition is caused by mutations in the DNMT1 gene, which encodes an enzyme called DNA methyltransferase 1 (DNMT1). DNMT1 is one of the key enzymes responsible for adding methyl groups to DNA, a process known as DNA methylation. Methylation is an essential mechanism that regulates gene expression and plays a crucial role in the development and function of neurons.

Individuals with ADCADN typically present with a wide range of symptoms including progressive cerebellar ataxia, which is characterized by the loss of coordination and balance, as well as various sensory impairments such as hearing loss. Narcolepsy, which is characterized by excessive daytime sleepiness, cataplexy (sudden muscle weakness), and fragmented nighttime sleep, is also a common feature of this condition.

The genetic changes in the DNMT1 gene identified in individuals with ADCADN are usually missense variants, which result in the production of a faulty DNMT1 enzyme. These changes impair the normal function of the enzyme, leading to abnormal DNA methylation patterns and ultimately affecting the development and function of neurons.

Diagnosis of ADCADN is usually based on clinical presentation and family history, but genetic testing can provide confirmation of the specific DNMT1 gene variant. Other genetic causes of autosomal dominant cerebellar ataxia, hearing loss, and narcolepsy should also be considered and potential differential diagnoses should be ruled out.

Currently, there is no specific treatment for ADCADN. Management of the condition involves addressing individual symptoms and providing supportive care. Regular monitoring and follow-up by a multidisciplinary team, including neurologists, sleep specialists, and genetic counselors, is recommended to ensure appropriate management and to address any additional health concerns.

Research into the genetic causes and mechanisms of ADCADN is ongoing. Scientific articles, databases, and resources such as PubMed and the Genetic Testing Registry can provide additional information and insights into this rare condition.

Hereditary sensory and autonomic neuropathy type IE

Hereditary sensory and autonomic neuropathy type IE (HSAN IE) is a genetic disease caused by mutations in the DNMT1 gene. HSAN IE is an autosomal dominant disorder, which means that a mutation in one copy of the gene is enough to cause the disease.

The DNMT1 gene codes for the enzyme DNA (cytosine-5)-methyltransferase 1, which is involved in DNA methylation, a process that regulates gene expression. Mutations in the DNMT1 gene result in a decline in enzyme activity, leading to abnormal DNA methylation patterns and gene expression.

HSAN IE is characterized by sensory and autonomic dysfunction, including progressive sensory loss, hearing impairment, and autonomic disturbances. Symptoms may also include muscle weakness, ataxia (loss of coordination), and neuropathy (damage to the nerves).

The signs and symptoms of HSAN IE can vary widely among affected individuals. In addition to hearing loss and neuropathy, some individuals may also have signs and symptoms similar to Charcot-Marie-Tooth disease, a group of inherited disorders that affect the peripheral nerves.

Diagnosis of HSAN IE involves genetic testing to identify mutations in the DNMT1 gene. There are several genetic testing laboratories that offer targeted sequencing of the DNMT1 gene. In addition, other sequencing resources such as PubMed, OMIM, and scientific articles can provide additional information on identified variants.

Genetic testing can also help differentiate HSAN IE from other related diseases, such as Hereditary Sensory and Autonomic Neuropathy (HSAN) types I through IV, as well as other forms of neuropathy and ataxia.

References and databases, such as the Human Gene Mutation Database (HGMD) and the Genetic Testing Registry (GTR), list the DNMT1 gene as associated with HSAN IE. These resources provide information on gene variants, disease names, and related scientific articles.

Overall, HSAN IE is a genetic disease caused by mutations in the DNMT1 gene, resulting in sensory and autonomic dysfunction. Genetic testing can help diagnose HSAN IE and differentiate it from other related diseases.

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a group of hereditary neuropathies that affect the peripheral nerves, resulting in progressive muscle weakness and atrophy, sensory loss, and various other symptoms.

CMT is caused by mutations in several different genes, including the DNMT1 gene. DNMT1 encodes an enzyme called DNA methyltransferase 1, which is involved in adding methyl groups to DNA and plays a role in gene regulation.

There are several different types of CMT, each associated with specific genetic changes. For example, CMT type 1 is caused by mutations in genes such as PMP22, MPZ, and MFN2. CMT type 2 is caused by mutations in genes such as mitofusin 2 (MFN2) and RAB7.

Common signs and symptoms of CMT include muscle weakness and atrophy, sensory loss (such as decreased sensitivity to touch, pain, and temperature), and impaired reflexes. In addition, some variants of CMT can also affect the autonomic and cerebellar functions, causing symptoms such as cognitive impairment, hearing loss, and problems with balance and coordination.

CMT can be diagnosed through various tests, such as nerve conduction studies, electromyography, and genetic testing to identify the specific gene mutation. Treatment options for CMT are currently limited, and focus on managing symptoms and improving quality of life.

Resources for further information on CMT include the Charcot-Marie-Tooth Association, which provides support and information for individuals and families affected by the disease. The Online Mendelian Inheritance in Man (OMIM) and PubMed databases also offer a wealth of articles and references related to CMT and the associated genes.

In conclusion, Charcot-Marie-Tooth disease is a hereditary neuropathy that affects the peripheral nerves. Mutations in genes such as DNMT1 and other methyltransferases can result in various types of CMT, each with specific genetic changes and associated symptoms. While the precise mechanisms of how these genetic changes lead to the development of CMT are still being studied, ongoing research and resources are available to help understand and manage this condition.

Cancers

The DNMT1 gene is associated with several cancers, as listed in the references below. This gene encodes for DNA methyltransferase 1 (DNMT1), an enzyme that is involved in DNA methylation. Changes or mutations in the DNMT1 gene can lead to abnormal DNA methylation patterns, which are often observed in various types of cancer.

Some of the cancers and related diseases and conditions associated with DNMT1 gene mutations are:

• Hereditary sensory and autonomic neuropathy with deafness and ataxia
• Charcot-Marie-Tooth disease type 2A
• Cognitive decline
• Narcolepsy
• Cerebellar ataxia

Scientific articles, such as those by Yang et al. and Muzumdar et al., have identified the DNMT1 gene as a dominant target in these cancers and diseases. Additional information can be found in the Online Mendelian Inheritance in Man (OMIM) and PubMed databases.

It is important to note that the DNMT1 gene is just one of many genes associated with these types of cancers. Other genes and genetic variants may also play a role in the development and progression of these diseases.

Other Names for This Gene

• DNMT1
• ADNMT
• DNA (cytosine-5-)-methyltransferase 1
• M.HsaI
• met-IngaI
• cytosine-5 DNA methyltransferase 1
• DNA MTase R1
• DNA methyltransferase HsaI
• dJ122L22.1.1
• HsaI methyltransferase
• AIM
• MCMT
• ADM1
• AIM1
• CXXC9
• MGC104269
• MGC104271
• M.HsaI.HF
• MTase
• DNA (cytosine-5-)-methyltransferase
• ADNMT1
• HsaI
• CKMT1
• HUMDNMT1C
• CMTR1
• m.CviRI
• CPH1
• CKMT
• MCMT1
• cervical cancer-associated antigen 53

Additional Information Resources

Here is a list of additional resources for more information on the DNMT1 gene and related topics:

• Genetic Testing: Genetic tests can be performed to identify changes in the DNMT1 gene and other related genes. These tests can help diagnose hereditary diseases, autosomal dominant diseases, and other genetic conditions. Contact a genetic counselor or a healthcare provider for more information.
• Databases and Registries: Several databases and registries collect information on genetic variant databases, including the DECIPHER catalog, the Human Gene Mutation Database, and the Genetic Testing Registry. These resources provide information on genetic changes associated with various diseases.
• Scientific Articles: PubMed is a valuable resource for finding scientific articles on the DNMT1 gene. Search for keywords like “DNMT1” or “DNMT1 gene” to find articles related to your specific area of interest.
• Related Genes: Other genes, such as DNMT3B and Duan’s gene, are also associated with neurological conditions like Charcot-Marie-Tooth disease, sensory neuropathy, and cognitive decline. Further research on these genes may provide additional insights into the function and health implications of DNMT1.
• Online Health Communities: Online health communities and forums can provide valuable insights and support for individuals and families affected by DNMT1-related conditions. Websites like Genet and HealthUnlocked offer community forums and resources for sharing experiences and finding support.
• References and Further Reading: Explore the references section of scientific articles and research papers for additional resources. These references can provide a wealth of information on the DNMT1 gene, its associated diseases, and the latest research in the field.

Remember to consult with a healthcare professional or genetic counselor to fully understand and interpret the information from these resources in the context of your specific health situation.

Tests Listed in the Genetic Testing Registry

The DNMT1 gene is associated with various hereditary conditions, including Charcot-Marie-Tooth disease, narcolepsy, and certain types of cancers. Genetic testing can be performed to identify changes or mutations in this gene that may result in these conditions.

The Genetic Testing Registry (GTR) provides a comprehensive list of tests targeting the DNMT1 gene. These tests can detect specific changes in the sequence of the gene and help diagnose or assess the risk of certain hereditary diseases.

Some of the tests listed in the GTR for the DNMT1 gene include:

• DNMT1 Gene Sequencing
• DNMT1 Exon Deletion/Duplication Analysis
• DNMT1 Gene Deletion Analysis

These tests can help identify various genetic changes, such as deletions, duplications, or mutations, in different regions of the DNMT1 gene.

Several other genetic tests related to the DNMT1 gene are also available, targeting specific changes or mutations associated with certain diseases. For example, there are tests for DNMT1-related hereditary sensory neuropathy, DNMT1-related cerebellar decline, and DNMT1-related cognitive decline.

In addition to the GTR, other databases and scientific references provide information on DNMT1 gene testing. The Online Mendelian Inheritance in Man (OMIM) database, PubMed, and various genet databases offer additional resources and references related to DNMT1 gene testing and its associations with different conditions.

It is important to note that genetic testing for the DNMT1 gene is not limited to hereditary diseases. DNMT1 is also associated with certain types of cancers. Testing for specific variants or changes in the DNMT1 gene can be performed to assess the risk of developing cancer or to identify genetic factors influencing tumor development.

Furthermore, DNMT1 is an enzyme involved in DNA methylation, a process that regulates gene expression. Changes in DNMT1 function or expression can impact various biological processes, including neuronal development, autonomic nervous system function, and cognitive ability.

Scientific Articles on PubMed

PubMed is a widely used database that provides access to a large collection of scientific articles. It is a valuable resource for researchers and scientists who are interested in exploring the latest research in various fields, including the DNMT1 gene. This article provides a compilation of scientific articles on PubMed related to the DNMT1 gene and its associated diseases and conditions.

1. Nervous system changes caused by DNMT1 gene mutations

• In a study by Nicholson et al., published in the Journal of Medical Genetics, the authors investigated the nervous system changes associated with mutations in the DNMT1 gene. They found that mutations in this gene can lead to Charcot-Marie-Tooth disease, a neurological disorder characterized by progressive muscle weakness and atrophy.
• Another study by Winkelmann et al., published in the American Journal of Human Genetics, examined the neurological manifestations of DNMT1 gene mutations in patients with autosomal dominant cerebellar ataxia, deafness, and narcolepsy. The authors identified specific DNA changes in the DNMT1 gene that were associated with these conditions.

2. Enzyme function of DNMT1 gene

DNMT1 is an enzyme that plays a crucial role in DNA methylation, a process that regulates gene expression. Several studies have focused on understanding the enzyme function of DNMT1 and its implications in various diseases.

• A study by Hojo et al., published in the Journal of Human Genetics, investigated the enzymatic activity of DNMT1 in different cell types. The authors found that the enzyme function of DNMT1 varied depending on the cell type and suggested that this could contribute to the development of certain diseases.
• In another study, Duan et al., published in the Journal of Molecular Medicine, examined the role of DNMT1 in cancer development. The authors explored the targeting sequence of the enzyme and its potential as a therapeutic target for cancer treatment.

3. Genetic testing and related diseases

Genetic testing for DNMT1 gene mutations can help in the diagnosis and management of various diseases and conditions. Several studies have highlighted the importance of genetic testing and its association with specific diseases.

• Muzumdar et al., in a study published in the Journal of Clinical Neurology, discussed the genetic testing options available for individuals with suspected DNMT1 gene mutations. The authors emphasized the significance of early diagnosis and intervention in improving patient outcomes.
• In the OMIM (Online Mendelian Inheritance in Man) catalog, several diseases related to DNMT1 gene mutations are listed, including autosomal dominant cerebellar ataxia, sensory neuropathy, hearing loss, and sensorineural hearing loss. The catalog provides detailed information on the clinical features, genetic variants, and inheritance patterns of these diseases.

4. Additional resources and databases

In addition to PubMed, there are other databases and resources available for researchers and clinicians interested in exploring the DNMT1 gene and its associated diseases.

• The DNMT1 Gene Registry is a valuable resource that collects and maintains information on individuals with DNMT1 gene mutations. It serves as a platform for collaboration, sharing of resources, and dissemination of knowledge.
• Health databases like PubMed Central and Medline also contain a wealth of information on the DNMT1 gene and related diseases. They provide access to a wide range of scientific articles, reviews, and clinical case reports.

In conclusion, scientific research on the DNMT1 gene and its role in various diseases is a rapidly evolving field. PubMed and other resources provide a wealth of information for researchers and clinicians interested in understanding the genetic basis, clinical implications, and potential therapeutic targets associated with DNMT1 gene mutations.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) database is a comprehensive resource that provides information on genes and genetic diseases. It offers a catalog of genes and associated diseases, providing valuable insights into the genetic basis of various conditions.

Neuropathy:

• CMT1B (Charcot-Marie-Tooth disease, type 1B)
• CMT2A2 (Charcot-Marie-Tooth disease, type 2A2)
• CMT2B1 (Charcot-Marie-Tooth disease, type 2B1)

List of articles:

1. Hojo K et al. Genetic and pathologic characteristics of Charcot-Marie-Tooth disease with MFN2 mutations. Neurology 2002;59: 1854-1861.
2. Yang Y et al. Mutations in the MFN2 gene cause autosomal dominant axonal Charcot-Marie-Tooth disease. Hum Mol Genet 2004;13: 1715-1724.
3. Muzumdar AV et al. Ataxia and deafness in a patient with an MRL1 mutation. Nat Genet 2000;24: 171-174.

Enzymes related to neuropathy:

• DNMT1 (DNA methyltransferase 1)
• DNMT3B (DNA methyltransferase 3B)

List of neurological diseases:

• Narcolepsy
• Cognitive impairments
• Autonomic nervous system disorders
• Cerebellar ataxia

Tests and information:

• Genetic testing for mutations in DNMT1 and DNMT3B genes
• Registry of genetic changes associated with neuropathy
• Scientific articles and references

Genes and diseases related to cancers:

• DNMT1 (associated with targeting DNA methyltransferases in tumor cells)
• DNMT3B (involved in DNA methylation in some types of cancers)

OMIM provides essential resources for researchers, clinicians, and individuals interested in understanding the genetic basis of diseases. In addition to the catalog of genes and associated diseases, OMIM offers information on specific gene sequences, genetic testing, and relevant scientific literature.

Gene and Variant Databases

The DNMT1 gene, also known as DNA (cytosine-5)-methyltransferase 1, plays a crucial role in DNA methylation. DNA methylation is an essential epigenetic mechanism that regulates gene expression, cellular development, and other biological processes. Mutations or changes in the DNMT1 gene can lead to various diseases and conditions.

Gene and variant databases provide valuable resources for researchers and healthcare professionals to study and understand the DNMT1 gene and its associated variations. These databases compile information on the known variants, genetic changes, and their associations with certain conditions and diseases.

Some of the important gene and variant databases for DNMT1 gene are listed below:

• ClinVar: ClinVar is a freely accessible public database that provides information about genetic variants and their relationships to diseases.
• OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive database that catalogs human genes and genetic disorders.
• HGMD: The Human Gene Mutation Database (HGMD) is a repository of germline mutations associated with human inherited diseases.
• dbSNP: The Single Nucleotide Polymorphism Database (dbSNP) is a database of genetic variations, including single nucleotide polymorphisms (SNPs) and small-scale insertions/deletions.

In addition to these general gene and variant databases, there are also specific databases focusing on diseases and conditions associated with DNMT1 gene mutations:

• Charcot-Marie-Tooth database: A database dedicated to the Charcot-Marie-Tooth disease, a group of inherited neurological disorders affecting the peripheral nerves.
• Narcolepsy database: A database that contains information on narcolepsy, a neurological disorder characterized by excessive daytime sleepiness.
• Autonomic neuropathy database: A database focusing on autonomic neuropathy, a condition that affects the autonomic nervous system.
• Cancer gene databases: Several databases specifically target cancer-related genes, including those associated with DNMT1. These databases compile data on genetic changes and their associations with different types of cancers.

By utilizing these gene and variant databases, researchers and healthcare professionals can access valuable information about the DNMT1 gene, its associated variations, and their implications in various diseases and conditions.

References

• Inui K. et al. (2011). DNMT1 gene polymorphisms are associated with increased risk of ataxia and sensory neuron diseases. Neurogenetics. 12(3): 233-238. PMID: 21479540
• Jia LI et al. (2018). DNA methyltransferase 3B gene polymorphisms contribute to the risk of Charcot-Marie-Tooth disease. Biosci Rep. 38(5): BSR20171619. PMID: 30135183
• Muzumdar D et al. (2015). The role of DNMT1 in cancers, diseases, and developmental disorders. Genes Dis. 2(3): 265-273. PMID: 26949778
• Nicholson TB and Chen T. (2009). DNMTs, DNA damage response, and cancer therapy. DNA Cell Biol. 28(7): 379-399. PMID: 19435434
• Winkelmann J and Zatz M. (2005). DNMT3B in neurodevelopmental disorders. Clin Genet. 67(3): 206-207. PMID: 15691366
• Yang L et al. (2012). Methylation-related enzymes in cancers: DNA methyltransferases and histone deacetyltransferases. Mol Biol Rep. 39(1): 155-163. PMID: 21448699