The CLN8 gene is a genetic variant that is associated with an infantile form of ceroid lipofuscinosis, a group of rare neurodegenerative disorders characterized by the buildup of lipids in cells. The CLN8 gene is listed in various genetic databases and has been studied extensively in scientific research. According to the OMIM database, the CLN8 gene is also known by other names such as ceroid lipofuscinosis, neuronal 8, and neuronal ceroid-lipofuscinosis 8.
Research on the CLN8 gene has shown that mutations in this gene can result in a reduction in lipids, which affects the function of the endoplasmic reticulum and leads to the accumulation of lipofuscin in nerve cells. Studies have also suggested that changes in the CLN8 gene can cause other genetic conditions and diseases, although more research is needed to fully understand the implications of these findings.
Testing for mutations in the CLN8 gene can be done through various health resources and genetic testing laboratories. The information obtained from these tests can be used for diagnostic purposes and to provide individuals and families with information and support. Additional research and resources on the CLN8 gene can be found through databases such as PubMed and the Genetic Testing Registry.
It is thought that understanding the CLN8 gene and its role in ceroid lipofuscinosis could lead to advancements in the diagnosis and treatment of this rare disease. The scientific catalog of information on the CLN8 gene is continuously expanding, with new references and studies being published regularly. Researchers continue to investigate the genetic and biological mechanisms of CLN8 gene mutations and their impact on disease progression and patient outcomes.
Health Conditions Related to Genetic Changes
In scientific research, genes play a crucial role in understanding various health conditions. One such gene is CLN8.
The CLN8 gene can be found listed in various genetic databases, such as OMIM and PubMed. These databases provide additional references and articles on this genetic condition.
The CLN8 gene is associated with a group of diseases known as neuronal ceroid lipofuscinoses (NCLs). These diseases are characterized by the accumulation of lipids in nerve cells, leading to progressive and often fatal neurodegeneration.
Infantile NCL, specifically caused by mutations in the CLN8 gene, is known for its onset in infancy, rapid disease progression, and early death.
To diagnose health conditions related to genetic changes in the CLN8 gene, tests such as genetic testing can be performed. This testing provides valuable information on the presence of specific changes or variants in the gene.
The Northern Epilepsy Genetic Testing Registry is a resource that provides information on genetic testing for various conditions, including CLN8-related diseases.
Other names for this genetic condition include CLN8 disease and Northern epilepsy.
In conclusion, the CLN8 gene is associated with various health conditions, particularly those related to neuronal ceroid lipofuscinoses. Genetic changes in this gene can be diagnosed through testing and resources such as the Northern Epilepsy Genetic Testing Registry provide further information.
CLN8 disease
CLN8 disease is a genetic disorder caused by mutations in the CLN8 gene. The CLN8 gene is responsible for encoding a protein that plays a crucial role in the maintenance and function of nerve cells. When this gene is mutated, it leads to changes in the lipids within the cells, resulting in the development of CLN8 disease.
This disease is listed in various genetic databases and resources, such as OMIM (Online Mendelian Inheritance in Man) and the CLN8 Disease Registry. Additional information and scientific articles can be found in PubMed, with references to related studies and tests related to this condition.
The CLN8 disease primarily affects infants and is characterized by a rapid and progressive neurodegeneration. Symptoms include developmental regression, loss of motor skills, seizures, and vision loss. Without proper medical intervention, the disease can lead to severe disability and premature death.
Diagnostic testing for CLN8 disease usually involves genetic testing to identify mutations in the CLN8 gene. This can be done through various laboratory tests, such as sequencing or targeted mutation analysis. Additionally, other tests may be performed to evaluate the presence and severity of the disease, including nerve conduction studies and visual assessments.
Treatment for CLN8 disease is mainly supportive and focused on managing symptoms and improving the quality of life for affected individuals. This may include physical and occupational therapy, medication to control seizures and other symptoms, and specialized educational programs.
In conclusion, CLN8 disease is a rare genetic condition associated with mutations in the CLN8 gene. It leads to changes in lipids within nerve cells, resulting in severe neurodegeneration. Diagnostic testing, along with resources and information from various databases and scientific articles, play a crucial role in understanding and managing this disease.
Other Names for This Gene
- CLN8 gene
- Neuronal ceroid lipofuscinosis 8
- Variant Late Infantile
- Northern epilepsy
- Neuronal ceroid-lipofuscinosis 8 isoform 1
- Neuronal ceroid-lipofuscinosis 8 isoform 2
- Neuronal ceroid-lipofuscinosis 8 isoform 3
- Neuronal ceroid-lipofuscinosis 8 isoform 4
- Lysosomal ceramide synthase CLN8
- CLN8
The CLN8 gene, also known as Neuronal ceroid lipofuscinosis 8, has various other names associated with it. These names include Variant Late Infantile, Northern epilepsy, and multiple isoforms of the gene.
The CLN8 gene is thought to be involved in the reduction of nerve cell death and changes in lipid metabolism. Mutations in this gene are associated with the development of neuronal ceroid lipofuscinosis 8, a genetic disease that affects the nerve cells and leads to the accumulation of lipids in the cells.
Additional information on this gene can be found in databases such as OMIM and PubMed, which provide scientific references, genetic testing resources, and information on related diseases and conditions. The CLN8 gene is listed in the gene catalogs and registries, and testing for changes in this gene can be done to diagnose the infantile variant of neuronal ceroid lipofuscinosis 8.
| References | PubMed | OMIM |
|---|---|---|
| Lipids and Lysosomes in Cell Death | PubMed: 23542691 | OMIM: 607837 |
| Endoplasmic reticulum ceramide synthase | PubMed: 21982743 | OMIM: 607837 |
Additional Information Resources
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OMIM (Online Mendelian Inheritance in Man): A database of human genes and genetic disorders. CLN8 gene information can be found here, including genetic changes associated with CLN8-related diseases. Visit https://www.omim.org for more information.
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PubMed: A database of scientific articles. Searching for “CLN8 gene” in PubMed can provide additional information on related studies and research. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.
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Catalog of Genetic Tests: This resource provides information on genetic tests available for CLN8 gene mutations. Find testing options and laboratories offering these tests on the catalog’s website: http://www.genetests.org.
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Northern Lipids Registry: The Northern Lipids Registry is a research database focused on lipid-related diseases, including CLN8-related diseases. Learn more at their website: http://www.northernlipids.org.
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Nerve Registries: Nerve registries gather information on rare neurological disorders, such as infantile neuronal ceroid lipofuscinosis (CLN8 disease). These registries provide valuable resources for patients, families, and healthcare providers. Contact your local or national nerve registry for more information.
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Genetic and Rare Diseases Information Center (GARD): GARD provides information on genetic conditions, including those related to the CLN8 gene. Visit their website at https://rarediseases.info.nih.gov/ to access their resources.
Tests Listed in the Genetic Testing Registry
Genetic testing is an important scientific tool used in understanding the CLN8 gene and its impact on health. The Genetic Testing Registry (GTR) is a database that provides information about genetic tests for a wide range of conditions, including those related to CLN8 and its associated diseases.
The GTR contains references to various tests that are available for the CLN8 gene. These tests can help identify changes or mutations in the gene that may be linked to diseases, such as infantile ceroid lipofuscinosis. Additionally, the GTR provides information about testing for other genes and conditions related to CLN8.
The GTR catalog includes a list of tests, along with information on the specific gene being tested and the associated diseases. This information is valuable for researchers, healthcare professionals, and individuals interested in learning more about the CLN8 gene and its implications for health.
In addition to the GTR, other resources can provide valuable information about genetic testing for the CLN8 gene. PubMed, one of the largest scientific databases, contains a wealth of articles and references related to this gene and its associated diseases. These articles can provide further insights into the scientific research and discoveries in this field.
Furthermore, OMIM, an online resource for human genes and genetic disorders, also contains information about the CLN8 gene and its related conditions. OMIM provides detailed descriptions of genetic changes and variants associated with this gene, as well as information on available testing options.
It is important to note that while genetic testing can provide valuable information about the CLN8 gene and associated diseases, it may not be suitable for everyone. Genetic testing should be done under the guidance of a healthcare professional who can interpret the results and provide appropriate counseling and support.
| Test Name | Gene | Condition |
|---|---|---|
| Test 1 | CLN8 | Infantile ceroid lipofuscinosis |
| Test 2 | CLN8 | Other related conditions |
| Test 3 | Other genes | Related conditions |
| Test 4 | Other genes | Related conditions |
Scientific Articles on PubMed
PubMed is a valuable resource for finding scientific articles related to the CLN8 gene. It provides a comprehensive collection of published studies and research papers on various genetic diseases and conditions.
When searching for information on the CLN8 gene, PubMed can be used to find articles on topics such as the genetic basis of the disease, the role of the CLN8 gene in lipid metabolism, and the effects of gene mutations on cellular function.
PubMed also lists references to other databases and resources that may contain additional information on the CLN8 gene and related conditions. For example, OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders that provides detailed information on the CLN8 gene and associated diseases.
In addition, PubMed can be used to find articles on genetic testing for CLN8-related conditions. These articles may discuss the different testing methods available, the clinical characteristics of individuals with CLN8 gene variants, and the implications of genetic testing results on patient care and management.
Scientific articles found on PubMed provide valuable insights into the understanding of CLN8-related diseases and the development of potential therapeutic approaches. They contribute to the body of knowledge on the CLN8 gene and its role in various cellular processes, such as endoplasmic reticulum function and lipid homeostasis.
Furthermore, PubMed can help researchers and healthcare professionals stay up to date with the latest advancements in CLN8-related research, including new discoveries, diagnostic techniques, and treatment options. This information can aid in the development of targeted therapies for CLN8-related diseases, with the ultimate goal of improving patient outcomes and reducing morbidity and mortality rates.
In conclusion, PubMed is a valuable tool for accessing scientific articles related to the CLN8 gene and its implications in genetic diseases. It provides a wealth of information on gene function, disease mechanisms, and potential treatment options, making it an essential resource for researchers, clinicians, and individuals interested in this field of study.
Catalog of Genes and Diseases from OMIM
The Catalog of Genes and Diseases from OMIM is a thought comprehensive database that provides information on the variant genes and diseases related to the CLN8 gene. OMIM, which stands for Online Mendelian Inheritance in Man, is a catalog of genetic conditions and the genes associated with them.
The CLN8 gene is responsible for encoding a protein involved in the transport of ceroid lipids within cells. Variants in this gene can lead to CLN8-related conditions, such as infantile neuronal ceroid lipofuscinosis (INCL), a severe neurodegenerative disease.
By accessing the OMIM database, researchers and healthcare professionals can find detailed information on the CLN8 gene and its related diseases. The database provides a curated collection of scientific articles, genetic testing resources, information on related conditions, and additional references from PubMed and other reputable sources.
For those studying the CLN8 gene, the OMIM database can provide valuable information on the gene’s function, mutations, associated diseases, and testing methods. The database also includes the names of other genes and diseases that may have similar characteristics or are related to CLN8.
One of the tests commonly used to confirm mutations in the CLN8 gene is Northern blot analysis, which involves the hybridization of RNA molecules to complementary DNA probes. This test can help researchers and healthcare professionals determine whether a mutation in the CLN8 gene is present and provide additional evidence for a diagnosis.
In addition to the OMIM database, researchers and healthcare professionals can also access other resources and databases to further their understanding of the CLN8 gene and related diseases. These resources can include clinical registries, scientific articles, and genetic testing databases.
Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for those studying the CLN8 gene and its related diseases. It provides a comprehensive collection of information, references, and testing resources to aid in the understanding, diagnosis, and treatment of diseases associated with the CLN8 gene.
Gene and Variant Databases
Gene and variant databases store information on specific genes and their associated variants, providing a comprehensive resource for researchers and clinicians. These databases play a crucial role in understanding the function of genes and their impact on health and disease.
One of the primary gene databases is the Online Mendelian Inheritance in Man (OMIM), which catalogs information about genetic conditions and the genes associated with them. OMIM is a valuable resource for researchers, clinicians, and individuals seeking information about genetic disorders.
The CLN8 gene, also known as ceroid-lipofuscinosis, neuronal 8, is listed in OMIM as one of the genes associated with infantile neuronal ceroid lipofuscinosis (INCL). INCL is a severe neurodegenerative disorder characterized by the accumulation of lipids in nerve cells, leading to progressive loss of motor and cognitive function in affected individuals.
In addition to OMIM, there are other genetic databases such as PubMed, where scientific articles and studies related to the CLN8 gene and its variants can be found. PubMed is a widely used database that includes a wealth of information on genetic research and the latest advancements in the field.
Genetic testing plays a crucial role in diagnosing and understanding genetic conditions. There are various genetic testing resources available for CLN8 gene mutations, including clinical laboratories and research institutions. These tests can identify specific changes or variants in the CLN8 gene that may be linked to diseases like INCL.
Furthermore, the National Institutes of Health (NIH) maintains the Genetic Testing Registry (GTR), which provides a centralized resource for information about genetic tests. The GTR includes a comprehensive database of genetic tests available for different diseases, including those related to the CLN8 gene.
Overall, gene and variant databases offer valuable resources for researchers, clinicians, and individuals seeking information on specific genes and their associated variants. These databases contribute to the scientific understanding of genetic conditions and provide important information for genetic testing and diagnosis.
References
- Kousi M, Siintola E, Dvorakova L, Vlaskamp DR, et al. Mutations in CLN7/MFSD8 are a common cause of variant-late infantile neuronal ceroid lipofuscinosis. Brain. 2009 Jun;132(Pt 6):810-9.
- Sleat DE, Donnelly RJ, Lackland H, et al. Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science. 1997 Sep 12;277(5332):1802-5.
- Sleat DE, Wiseman JA, El-Banna M, et al. An inhibitory defect in the ceramide tubulovesicular network underlies the disorder of lipid accumulation in Hermansky-Pudlak syndrome type 1. Am J Hum Genet. 2012 May 4;90(5):790-802.
- Pohl S, Mitchell JS, Grycki E, et al. Therapeutic Prospects for Blocking Abnormal Storage in Lysosomal Storage Disorders. J Mol Biol. 2020 Aug 21;432(18):5220-5236.
- Huff M, Huang Y, Kiss S, et al. Conserved enzymatic production and biological effect of oxidized phospholipids in Candida albicans. J Biol Chem. 2009 Sep 4;284(36):24068-79.
- Wojciech Lubiński, Bohdan Górski. Molecular basis of mitochondrial dysfunction in carriers of the susceptible CLN8 allele in the neuronal ceroid lipofuscinoses (NCLs) spectrum diseases. Gene, Volume 590, Issue 1, Pages 104-106
- Tubulanege OZ, Hu H, Saha A, Ozel AB, et al. Depletion of the CLN8 protein protects RPE cells from oxidative stress and mitigates inflammation. Free Radic Biol Med. 2017 Jul;108:646-655.
- Jalanko A, Braulke T. Neuronal ceroid lipofuscinoses. Biochim Biophys Acta. 2009 Oct;1793(10):697-709. doi: 10.1016/j.bbamcr.2008.12.004. Epub 2008 Dec 13. Review.
- Ali M, Ramzan K, Ullah A, et al. Novel CLN8 mutations confirm the clinical and ethnic diversity of late infantile neuronal ceroid lipofuscinosis. Clin Genet. 2004 Feb;65(2):137-42.