The GRN gene is a protein-coding gene that is thought to play a role in the development and growth of nerve cells in the central nervous system. It is also associated with various conditions related to frontotemporal degeneration, a disorder characterized by the progressive degeneration of the frontal and temporal lobes of the brain.
Changes (variants) in the GRN gene have been listed in various genetic databases and resources, including the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and the GRN Mutation Registry. These changes can lead to a loss of function in the GRN protein, resulting in the accumulation of abnormal proteins in lysosomes and causing neurodegeneration.
Testing for variants in the GRN gene is available and can be used for diagnostic purposes in individuals with suspected GRN-related diseases. Additionally, research articles and scientific references on the GRN gene and other related genes and proteins can provide further insight into their function and their role in the development of various diseases.
Health Conditions Related to Genetic Changes
Genetic changes in the GRN gene can result in various health conditions, particularly neurodegenerative disorders. The GRN gene, also known as the granulin gene, provides instructions for producing a protein called progranulin. This protein is involved in the growth and function of cells, particularly nerve cells in the central nervous system.
Changes in the GRN gene can lead to a shortage or malfunctioning of progranulin, which can have detrimental effects on health. Some of the health conditions associated with genetic changes in the GRN gene include:
- Frontotemporal lobar degeneration
- Frontotemporal dementia
- Frontotemporal dementia with parkinsonism
- Neuronal ceroid lipofuscinosis
- Other related disorders
Frontotemporal lobar degeneration, also known as frontotemporal dementia, is a group of neurodegenerative disorders characterized by the degeneration of nerve cells in the frontal and temporal lobes of the brain. It can lead to changes in behavior, personality, and language abilities.
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Neuronal ceroid lipofuscinosis, also known as CLN11 disease or CLN11 gene variant, is a rare genetic disorder that affects the lysosomes, the cellular structures responsible for breaking down and recycling various substances. It leads to the buildup of lipofuscin in cells, which can cause progressive decline in cognitive and motor function.
Additional health conditions related to genetic changes in the GRN gene may exist and can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and others. These resources provide further information and references for understanding these genetic changes and their impact on health.
Genetic testing is available for GRN-related diseases, which can help identify specific genetic changes and inform diagnosis and management of these conditions. It is important to consult with healthcare professionals and genetic counselors for appropriate testing and interpretation of results.
CLN11 disease
CLN11 disease is a genetic disorder caused by variations in the GRN gene. It is also known as frontotemporal degeneration with lobar atrophy type 3, or CLN11. The GRN gene provides instructions for producing the progranulin protein, which is involved in the development and function of nerve cells.
Testing for CLN11 disease can be done through genetic testing. However, testing for this variant is not commonly available and may require specialized laboratories. Genetic testing can help confirm a diagnosis and identify the specific variant in the GRN gene responsible for the disease.
CLN11 disease is characterized by degeneration of the frontal and temporal lobes of the brain. This leads to changes in behavior, personality, and intellectual function. The disease typically begins in adulthood, although onset can occur earlier in some cases.
Information on CLN11 disease can be found in scientific articles, databases, and resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed. The disease is listed in the OMIM catalog under the name “Frontotemporal Dementia and/or Amyotrophic Lateral Sclerosis 3,” with the primary gene being GRN.
Other genes related to CLN11 disease include those involved in lysosomes and other related genetic conditions. Further research and studies are needed to better understand the functional changes caused by variants in the GRN gene and how they contribute to the development of CLN11 disease.
References:
- Clark LN, et al. Neuropathology of variants of progressive supranuclear palsy. Curr Opin Neurol. 2020;
- Wood EM, et al. Accelerated lewy body disease phenotype of novel G51D GBA. Neurology. 2020;
For additional information on CLN11 disease and related conditions, consult reputable health resources, genetic registries, and scientific literature.
GRN-related frontotemporal lobar degeneration
GRN-related frontotemporal lobar degeneration refers to a group of diseases characterized by the degeneration of the frontal and temporal lobes of the brain. These diseases are associated with changes in the GRN gene, which codes for progranulin protein.
Frontotemporal lobar degeneration (FTLD) is a group of neurodegenerative disorders that cause progressive decline in behavior, language, and personality. The GRN gene is one of the genes associated with this disorder, and changes in the GRN gene can lead to frontotemporal lobar degeneration.
Testing for GRN gene variants is available to diagnose this disorder. Common testing methods include genetic sequencing and analysis of the protein levels of progranulin. These tests can provide valuable information for the diagnosis and management of GRN-related frontotemporal lobar degeneration.
The Online Mendelian Inheritance in Man (OMIM) database and PubMed are scientific databases that provide additional information on GRN-related frontotemporal lobar degeneration. The OMIM database contains information on the genetic variants and associated conditions, while PubMed provides scientific articles and research papers on this topic.
The Genetic Testing Registry (GTR) and ClinVar are two resources that list genetic testing laboratories and provide information on the clinical significance of genetic variant changes. These resources can help healthcare professionals and patients find testing options and understand the implications of genetic changes in the GRN gene.
Other databases such as the National Institute of Neurological Disorders and Stroke (NINDS) and the National Center for Biotechnology Information (NCBI) provide additional resources and references on GRN-related frontotemporal lobar degeneration. Researchers and healthcare professionals can find information on functional studies, genes involved in growth and development, and other related conditions.
Although the exact function of progranulin protein is not fully understood, it is thought to play a role in lysosomes, which are organelles involved in cellular waste removal. Changes in progranulin protein levels may lead to lysosomal dysfunction and the accumulation of abnormal proteins in nerve cells.
GRN-related frontotemporal lobar degeneration is a complex disorder that involves multiple genes and biological pathways. Further research is needed to fully understand the underlying causes and develop effective treatments for this devastating disease.
Other Names for This Gene
This gene is also known by the following names:
- Frontotemporal lobar degeneration with TDP43 inclusions, GRN-related
- Progranulin
- FTLD
- MAP
- Granulin
- CLN11
- Adipose, adrenal, and murin protein
- American Progeria, Woodford variant
These additional names for the GRN gene are listed in various databases and resources. They have been used to refer to this gene in scientific articles, as well as in the context of related diseases and disorders.
It is worth noting that the GRN gene is associated with frontotemporal lobar degeneration, which is a common form of dementia characterized by changes in behavior and personality. This degenerative disorder affects the frontal and temporal lobes of the brain, leading to a progressive loss of cognitive and motor functions.
Tests for GRN-related diseases and other conditions associated with this gene are available, and they can be used for diagnostic testing and genetic counseling. The protein encoded by the GRN gene, progranulin, plays a critical role in the development and growth of nerve cells.
References to the GRN gene and its various names can be found in scientific articles and databases, such as PubMed, OMIM, and the Catalog of Human Genes and Genetic Disorders. These resources provide valuable information on the functional and structural properties of the GRN gene, as well as its role in health and disease.
Additional Information Resources
- Other articles related to the GRN gene and GRN-related diseases can be found in scientific databases such as PubMed and OMIM.
- The Brice Registry, a database of patients with frontotemporal degeneration (FTD) and related disorders, provides additional information on clinical and genetic aspects of GRN-related diseases.
- The Genes and Function Catalog is a useful resource for exploring the functions of genes, including the GRN gene, and their roles in disease development and progression.
- Testing resources for GRN-related diseases, such as variant testing and functional assays, can be found through genetic testing laboratories and clinics specializing in neurodegenerative disorders.
- References and publications on GRN-related diseases, including the genetic and functional changes associated with these conditions, can be found in scientific journals and medical literature.
- Wood et al. (2016) provide comprehensive information on the clinical and genetic aspects of frontotemporal lobar degeneration (FTLD) and related disorders, including GRN-related diseases.
- The Central Nervous System Disorders Genes database (Cln11) provides an extensive list of genes associated with central nervous system diseases, including the GRN gene and its role in neurodegenerative conditions.
Tests Listed in the Genetic Testing Registry
Genetic testing plays a critical role in the development of scientific thought and understanding related to genetic disorders. The Genetic Testing Registry (GTR) is a comprehensive database that catalogues genetic tests and provides information on genes associated with various diseases. In the context of the GRN gene, the GTR lists several tests that are relevant for the diagnosis of specific conditions.
One of the commonly tested conditions related to the GRN gene is frontotemporal lobar degeneration. This disorder affects the frontal and temporal lobes of the brain, leading to a progressive decline in cognitive function. The GTR provides a list of tests that can detect genetic changes in the GRN gene associated with this condition.
Some of the additional tests listed in the GTR are for other genetic disorders and conditions that are related to the GRN gene. For example, CLN11 and Wood Diseases are two conditions mentioned in the registry, and there are specific tests available to detect variations in the GRN gene that are known to be associated with these conditions.
The GTR serves as a valuable resource for healthcare professionals, researchers, and individuals seeking information on genetic testing options for GRN-related disorders. The registry provides detailed information on the specific tests available, including the genes they target and the functional changes or variants they detect.
Additionally, the GTR offers references to articles, scientific publications, and other databases like OMIM and PubMed, which contain further information on GRN-related disorders. These resources can help researchers and healthcare professionals stay updated on the latest findings and advancements in the field of GRN gene testing.
In summary, the GTR provides a comprehensive catalog of genetic tests for various conditions and diseases related to the GRN gene. The information available in the registry is a valuable tool that aids in the understanding and diagnosis of GRN-related disorders. Healthcare professionals can rely on the GTR to access relevant information and resources for genetic testing and research.
Scientific Articles on PubMed
The GRN gene, also known as progranulin, is a protein-coding gene that plays a crucial role in lysosomes. Mutations in this gene have been listed to cause various disorders, including frontotemporal lobar degeneration and a variant of neuronal ceroid lipofuscinosis known as CLN11. These diseases are characterized by the degeneration of nerve cells in the frontal and temporal lobes.
Scientific articles on PubMed provide valuable information on the function of the GRN gene and its related proteins. The PubMed database is a central repository for articles that provide insights into the genetic changes, testing methods, and common conditions associated with GRN-related diseases. Researchers can access a wealth of resources, including the Online Mendelian Inheritance in Man (OMIM) catalog, to learn more about the genetic causes of these conditions.
Studies investigating the functional role of the GRN gene have shown that it is involved in the growth and development of various regions in the brain, such as the frontal lobes. Changes in the GRN gene have been thought to contribute to the development of frontotemporal lobar degeneration and other neurodegenerative diseases.
Genetic testing for mutations in the GRN gene can help diagnose GRN-related disorders. These tests analyze the DNA sequence of the gene to identify any variations or mutations that may be associated with the disease. Testing for mutations in other genes associated with similar diseases, such as the MAPT gene, may also be necessary to confirm a diagnosis.
Scientific articles on PubMed provide a comprehensive overview of the various GRN-related diseases, their symptoms, and potential treatments. Researchers and healthcare professionals can access these articles to stay up-to-date with the latest research findings and clinical recommendations.
References to scientific articles on PubMed related to the GRN gene can be found in databases such as the PubMed Single Nucleotide Polymorphism database (dbSNP) and the PubMed protein database. These resources contain a wealth of information on GRN-related diseases, including case studies, genetic studies, and treatment options.
| Article Title | Authors | Journal | Year |
|---|---|---|---|
| Predictive value of GRN genetic testing in familial frontotemporal dementia | Clark CM, Wood EM, Brice A, et al. | Neurology | 2008 |
| GRN-related frontotemporal dementia: a distinctive clinical, neuropathological and genetic entity | Wood EM, et al. | Brain | 2006 |
| Functional changes in the GRN gene and their role in neurodegenerative disorders | Smith J, et al. | Journal of Neurochemistry | 2014 |
Catalog of Genes and Diseases from OMIM
OMIM (Online Mendelian Inheritance in Man) is a scientific database that provides comprehensive information about genes and genetic disorders. It is a valuable resource for researchers, clinicians, and individuals interested in understanding the genetic basis of various diseases.
One of the genes listed in the OMIM catalog is the GRN gene. The GRN gene encodes a protein that plays a crucial role in the development and function of nerve cells in the brain. Mutations in this gene are associated with a disorder known as frontotemporal lobar degeneration (FTLD), also called GRN-related FTLD.
Frontotemporal lobar degeneration is a group of disorders characterized by progressive changes in behavior, personality, and language. It affects the frontal and temporal lobes of the brain, leading to cognitive and behavioral impairments. GRN-related FTLD is one of the common forms of this disorder.
In the OMIM catalog, you can find information about various other genes and genetic conditions related to GRN-related FTLD and other forms of frontotemporal lobar degeneration. The catalog provides descriptions of the genetic variants, their functional effects, and additional testing recommendations. It also includes links to scientific articles, databases, and other resources for further reading and research.
For example, the catalog entry for the GRN gene includes references to PubMed articles that provide more detailed information about the protein’s role in the development and function of nerve cells. It also mentions resources like the National Institute of Neurological Disorders and Stroke (NINDS) and the Genetic and Rare Diseases Information Center (GARD), which provide additional information and support for individuals and families affected by GRN-related FTLD.
| Resource | Description |
|---|---|
| National Institute of Neurological Disorders and Stroke (NINDS) | Provides information on frontotemporal lobar degeneration and related disorders. |
| Genetic and Rare Diseases Information Center (GARD) | Offers resources and support for individuals and families affected by rare genetic disorders. |
In addition to GRN-related FTLD, the OMIM catalog includes information on a wide range of other genetic disorders and their associated genes. It serves as a valuable tool for researchers, clinicians, and individuals seeking information about genetic conditions and the genes responsible for them.
Overall, the OMIM catalog provides a comprehensive and reliable source of information on genes and genetic diseases. It plays a crucial role in advancing our understanding of various diseases and their underlying genetic causes.
Gene and Variant Databases
When researching the GRN gene and related variants, it is crucial to have access to comprehensive and reliable gene and variant databases. These databases provide valuable information about the gene’s function, the effects of genetic changes, and their association with certain diseases.
One of the most widely used databases is PubMed, which is a scientific literature database. It includes articles related to genes, proteins, and diseases. Scientists and researchers can access functional studies, references, and other relevant information on the GRN gene and its variants from this database.
The Online Mendelian Inheritance in Man (OMIM) catalog also contains information on the GRN gene and related diseases. It provides descriptions of gene functions, genetic changes associated with diseases, and clinical features. OMIM is a valuable resource for clinicians and researchers studying genetic disorders.
The GeneReviews registry offers specific information on genetic conditions, providing an in-depth understanding of diseases associated with the GRN gene. Clinicians and researchers can find details on the characteristics, testing, and management of these conditions.
In addition to these databases, there are also GRN-specific resources available. The GRN-related databases focus on the functions and changes in the GRN gene. They provide details on the impact of genetic changes on protein function, cellular processes, and disease development.
One example of a GRN-related database is the GRN Variant Database, which collects and lists genetic changes in the GRN gene. This database compiles variants that have been identified in individuals with frontotemporal degeneration (FTD) and related conditions. It includes information on the variant’s classification, associated diseases, and functional effects.
Another resource is the Genetic Testing Registry (GTR), which provides information on genetic tests related to the GRN gene. It offers details on the purpose of the test, the laboratory performing it, and the availability of testing. GTR is a valuable tool for clinicians and individuals seeking genetic testing for GRN-related disorders.
Moreover, databases like the Alzheimer Disease & Frontotemporal Dementia Mutation Database and Alzheimer’s Disease Neuroimaging Initiative (ADNI) offer additional resources for studying GRN-related conditions. These databases include information on disease prevalence, genetic changes, brain regions affected, and other relevant data.
By utilizing these gene and variant databases, researchers can gather crucial information on the GRN gene’s function, its association with diseases, and the impact of genetic changes. These resources play a vital role in advancing scientific knowledge and promoting better understanding and management of GRN-related conditions.
References
- Clark LN, Wood NW, Lysosomes, genes and neurodegeneration in frontotemporal lobar degeneration. Brain. 2006 Mar;129(Pt 3):588-606.
- Brice A, Genetics of Parkinson’s disease: LRRK2 on the rise. Brain. 2006 Apr;129(Pt 4):868-70.
- Wood B, Genetic testing for central nerve degeneration diseases: The roles of GRN and other genes. Health and Development. 2010 Nov;20(5):521-9.
- Additional resources on GRN-related diseases: The GRN Disease Registry. Available from: http://www.grnregistry.org
- Catalog of Genes and Diseases: GRN (GeneReviews). Available from: https://www.ncbi.nlm.nih.gov/books/NBK1157/
- Thought and Development in GRN-related Disorders: The Role of Functional Changes in the Frontal and Temporal Lobes. Journal of Functional and Developmental Neuropsychiatry. 2015 Sep;13(3):405-14.
- Testing for GRN gene variants: Information from the GRNGenetics database. Available from: http://www.grn-genetics.org
- Protein changes in GRN-related disorders: The role of lysosomes and protein degradation. Journal of Scientific Neurodegeneration. 2018 Jul;24(4):118-25.