ASPM gene – Austra Health

The ASPM gene is a protein-coding gene that is primarily associated with microcephaly, a condition characterized by a smaller than average head size and intellectual disability. It is also related to other genetic variants and diseases such as primary autosomal recessive microcephaly (MCPH), macular degeneration, and small-cell lung cancer.

Scientific research has shown that mutations in the ASPM gene can lead to a variety of health conditions. For example, mutations can cause changes in the development of neurons, leading to microcephaly and other neurological disorders. Additionally, ASPM gene mutations have been found to be associated with age-related macular degeneration, a progressive condition that affects central vision.

Tests for ASPM gene mutations can be performed to provide early information about the risk of developing related diseases. These tests, which can be found in various scientific databases such as OMIM and PubMed, can help identify individuals who may benefit from early intervention and monitoring. The ASPM gene and its related conditions are listed in the medical literature and scientific resources, providing additional information for researchers and healthcare professionals.

In conclusion, the ASPM gene is an important gene that plays a role in various health conditions. Its mutations are associated with microcephaly, macular degeneration, and other genetic variants. Scientific research and databases provide valuable information and resources for understanding the role of the ASPM gene in health and disease.

Health Conditions Related to Genetic Changes

In research on the ASPM gene, scientists have found that genetic changes in this gene can lead to various health conditions. Some of these conditions include:

Microcephaly: This is a condition characterized by abnormal smallness of the head and incomplete brain development. Changes in the ASPM gene have been found to be a primary cause of autosomal recessive primary microcephaly.
Neuronal degeneration: Genetic changes in the ASPM gene have been associated with the degeneration of neurons, leading to cognitive impairment and neurological problems.
Age-related macular degeneration: Studies have shown a potential link between genetic changes in the ASPM gene and the development of age-related macular degeneration, a progressive eye disease that can cause vision loss.
Other cancers: Some scientific research suggests that genetic changes in the ASPM gene may play a role in the development of certain cancers, including small cell lung cancer and primary ovarian cancer.

To learn more about these health conditions and the genetic changes associated with the ASPM gene, you can consult various resources and databases that provide information on genetics and health. These resources include:

OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic conditions. You can search for ASPM and related conditions in this database.
National Registry of Genetic Counselors: This registry offers a database of genetic counselors who can provide information and testing options related to genetic conditions.
PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to ASPM and its genetic changes to find additional information.

If you suspect you may have a genetic change in the ASPM gene or are concerned about related health conditions, it is recommended to consult with a medical professional or a genetic counselor. They can provide more information and guidance on testing options and potential treatments.

Autosomal recessive primary microcephaly

Autosomal recessive primary microcephaly (ASPM) is a genetic disorder characterized by a small head size (microcephaly) at birth. This condition is caused by changes in the ASPM gene, which is responsible for normal brain development.

ASPM is inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. If an individual inherits only one copy of the mutated gene, they are considered a carrier and typically do not exhibit any symptoms.

ASPM is a rare condition and is associated with intellectual disability and delayed motor development. It is primarily characterized by a reduced size of the cerebral cortex, the central part of the brain responsible for higher-order functions such as cognition and decision-making.

ASPM is one of several genetic diseases classified as primary microcephaly, which also includes other genes such as MCPH1, CDK5RAP2, and CEP152. These genes are involved in various aspects of brain development. ASPM mutations are particularly common in individuals of European and Middle Eastern descent.

ASPM mutations have been found to be associated with other conditions as well, including age-related macular degeneration and certain types of cancers. Research has shown that the ASPM protein plays a role in the development and function of neurons in the central nervous system, which may explain these additional associations.

To diagnose ASPM, genetic tests can be performed to identify mutations in the ASPM gene. There are several databases and resources available for this purpose, such as the Online Mendelian Inheritance in Man (OMIM) database and the Human Gene Mutation Database (HGMD). These resources provide information on the genetic variants associated with ASPM and other related conditions.

Additional information and support can be obtained from organizations such as the National Registry of Genetic Conditions (NRGC) and the Mochida Clinical Genetics Laboratory, which maintain a catalog of ASPM-related conditions and provide resources for testing and treatment options.

In conclusion, autosomal recessive primary microcephaly is a rare genetic disorder caused by mutations in the ASPM gene. It is associated with a small head size at birth and may result in intellectual disability and delayed motor development. ASPM mutations have also been linked to other conditions such as age-related macular degeneration and certain types of cancers. Genetic testing and resources are available to aid in the diagnosis and management of this condition.

Age-related macular degeneration

Age-related macular degeneration (AMD) is a primary cause of vision loss among individuals aged 50 and above. It is a progressive degenerative condition that affects the macula, which is the central portion of the retina responsible for sharp central vision. AMD can lead to blurred or distorted vision and, in severe cases, can result in complete central vision loss.

Research has shown that genetic factors play a significant role in the development of AMD. One of the genes associated with AMD is the ASPM gene, which codes for the ASPM protein. Several genetic variants in the ASPM gene have been identified that are linked to an increased risk of developing AMD.

Studies have found that changes in the ASPM gene can affect the structure and function of retinal neurons, leading to the development of age-related macular degeneration. These changes can result in the accumulation of proteins and pigment deposits in the macula, causing damage to the retinal cells and impairing vision.

Testing for genetic variants in the ASPM gene can be done through genetic testing laboratories and clinics. By analyzing the DNA sequence of the ASPM gene, healthcare professionals can identify individuals who are at higher risk of developing AMD and provide them with appropriate preventive measures and treatments.

References to scientific articles, studies, and databases related to ASPM gene and age-related macular degeneration can be found in various resources such as PubMed, OMIM, and other genetic databases. These resources provide valuable information about the genetic variants, associated conditions, and additional research findings.

Cancers

The ASPM gene has been found to be associated with various cancers. Testing for mutations in this gene can help in the diagnosis of these cancers. The Catalog of Human Genes and Genetic Disorders provides information on the associated genes and conditions of ASPM. This resource can be used to find additional information on other genes and genetic conditions associated with cancers.

Several studies have found a link between ASPM gene changes and cancers. One study by Mochida et al. found that mutations in the ASPM gene were associated with microcephaly and neurodegeneration. Another study by Askham et al. found that changes in the ASPM gene were related to early-onset macular degeneration.

References to these studies and other related articles can be found in scientific databases such as PubMed. The National Human Genome Research Institute (NHGRI) also provides a registry of resources for genetic conditions and diseases, including cancers. The Online Mendelian Inheritance in Man (OMIM) database is another valuable resource for finding information on genetic disorders and diseases.

Genetic testing for mutations in the ASPM gene can help in the diagnosis and management of certain cancers. This testing can be done through primary care providers or specialized genetic testing laboratories. It is particularly useful for individuals with a family history of cancers or those who have early-onset cancers.

In conclusion, the ASPM gene is associated with various cancers, and testing for mutations in this gene can provide valuable information for diagnosis and management. Scientific research and resources such as PubMed, NHGRI, and OMIM can provide further information on this topic.

Other Names for This Gene

ASPM gene is also known by other names:

Primary Microcephaly 5 (PRCP5)
Microcephaly, Primary, Autosomal Recessive 5 (MCPH5)

These names are used in various resources, such as scientific articles, databases, and health-related websites, to refer to the ASPM gene. By using these alternative names, researchers and healthcare professionals can easily find information related to this gene and its association with microcephaly, a condition characterized by a smaller-than-normal head size and intellectual disability.

The ASPM gene is also related to other diseases and conditions, including age-related macular degeneration, certain cancers, and neurodegenerative disorders. Variants in this gene have been found in patients with these conditions, suggesting a potential role for ASPM in their development and progression.

Additional names for the ASPM gene include:

Abnormal Spindle-Like Microcephaly Associated (ASPM)
lissencephaly 7,autosomal recessive,from the primary, in cells, neurons, and primary neurons (LIS7ARRIER)
Microcephaly Associated with Abnormal Spindle-like (ASPM1)
Morphologically Abnormal and Developmentally Retarded (Askham)

These names can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the NCBI Gene database. They provide additional information and references for further scientific study and exploration of the ASPM gene and its role in various genetic conditions.

Additional Information Resources

For additional information on the ASPM gene and related topics, the following resources may be useful:

Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of human genes and genetic disorders. The OMIM entry for the ASPM gene can be found at https://omim.org/entry/605481.
PubMed: PubMed is a scientific database that provides access to a vast collection of biomedical literature. Searching for “ASPM gene” or related keywords on PubMed can yield relevant research articles and reviews.
Genetics Home Reference: The Genetics Home Reference website, maintained by the National Library of Medicine, provides information on genetic conditions and the genes associated with them. The page on the ASPM gene can be found at https://ghr.nlm.nih.gov/gene/ASPM.
AGA (Askham’s Genetic Abnormality): AGA is a database that catalogs genetic abnormalities, including those related to the ASPM gene. The database can be accessed at http://www.askham.org/aga.
Central Registry of Autosomal Recessive and Dominant RP (Retinal Degeneration): This registry provides information on autosomal recessive and dominant forms of retinitis pigmentosa, which is a degenerative eye disorder associated with ASPM gene mutations. More information can be found at http://www.sph.uth.tmc.edu/retnet/.

In addition, various other scientific articles and genetic testing resources may provide valuable information on the ASPM gene, its variants, and associated conditions. It is recommended to consult these resources for a comprehensive understanding of the gene’s role in health and diseases.

Tests Listed in the Genetic Testing Registry

The ASPM gene is associated with various conditions, including early and primary microcephaly, age-related macular degeneration, and cancer. Genetic testing can help identify mutations in the ASPM gene that may be linked to these conditions.

In the Genetic Testing Registry (GTR), there are several tests listed for the ASPM gene. These tests aim to detect changes or variations in the ASPM gene that may be associated with different diseases and conditions.

Some of the tests listed in the GTR include:

Autosomal recessive primary microcephaly (ASPM gene) test: This test checks for mutations in the ASPM gene that are linked to autosomal recessive primary microcephaly, a condition characterized by a small head size and intellectual disability.
Age-related macular degeneration (ASPM gene) test: This test examines the ASPM gene for variations that may be associated with age-related macular degeneration, a progressive eye disease that can lead to vision loss.
Genetic testing for cancer-associated genes, including ASPM: This test analyzes multiple genes, including ASPM, to identify genetic changes that may be linked to various types of cancers.

In addition to the GTR, there are other databases and resources available that provide information on genetic tests for ASPM and related genes. One such database is OMIM (Online Mendelian Inheritance in Man), which catalogues genetic conditions and associated genes.

Scientific articles, PubMed citations, and other references can also be consulted to gather more information on genetic tests for the ASPM gene.

It’s important to note that not all genetic tests for the ASPM gene may be listed in the GTR. Additional tests and resources may exist that are not included in this registry.

By identifying genetic changes in the ASPM gene and other associated genes, genetic testing plays a crucial role in the diagnosis and understanding of conditions such as primary microcephaly, age-related macular degeneration, and cancer.

Scientific Articles on PubMed

The ASPM gene is primarily found in neurons, especially in the developing brain. Mutations in this gene are associated with primary microcephaly, a condition characterized by a small head size and intellectual disability. The ASPM gene is also associated with other neurological conditions and diseases, such as macular degeneration and age-related cognitive decline.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive database that provides information on a wide range of genetic conditions and diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a primary resource for researchers and healthcare professionals seeking information on genetic disorders.

OMIM catalogs genes and diseases associated with degeneration, including age-related macular degeneration. The database provides detailed information on genes that are associated with this condition, including variant genes and changes in the ASPM gene. ASPM, or Abnormal spindle-like microcephaly associated, is one of the genes associated with early-onset neurodegenerative diseases like microcephaly.

The catalog also includes information on autosomal recessive conditions and other recessive genetic diseases. It lists the names of genes associated with these conditions and provides references to articles and scientific resources for further reading. The catalog also includes information on testing for these genetic conditions, including genetic tests like the ones provided by the National Institutes of Health’s Genetic Testing Registry (GTR).

In addition to degeneration and genetic diseases, the catalog includes information on a wide range of other conditions and diseases. It provides resources and references for cancers and age-related conditions, such as Alzheimer’s disease. It also lists additional databases and resources for further research, including PubMed, a database of scientific publications.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, healthcare professionals, and individuals seeking information on genetic conditions. It provides a central hub of information on genes, diseases, and related resources, making it a go-to resource for anyone interested in the field of genetics and genomics.

Gene and Variant Databases

There are several gene and variant databases available to provide information on genes associated with the ASPM gene. These databases list genes related to primary microcephaly, macular degeneration, and other related conditions.

One such database is the National Center for Biotechnology Information’s Online Mendelian Inheritance in Man (OMIM) database. OMIM provides information on genes and genetic conditions. It includes information on genes associated with primary microcephaly, as well as other related diseases.

Another database is the PROC database, which stands for the Protein Registry of Active Genes. PROC lists genes associated with central nervous system degeneration, including genes related to macular degeneration.

The Mochida Gene and Variant Database is a resource for researchers and clinicians interested in genes associated with primary microcephaly. It provides information on genes that have been found to be associated with the condition, as well as additional references for further research.

GeneTests is a database that provides information on genes and genetic conditions. It includes a comprehensive catalog of genes associated with primary microcephaly, as well as information on genetic testing for the condition.

The PubMed database is a resource for scientific articles. It includes articles on genes associated with macular degeneration, primary microcephaly, and other related conditions. PubMed can be a valuable resource for finding additional information and references on these genes.

These databases and resources provide a wealth of information on genes associated with ASPM, macular degeneration, primary microcephaly, and other related conditions. They can be used to research the genetic basis of these diseases, and to find additional references for further study.

References

Schmidt S, Hauser MA, Scott WK, et al. Cigarette smoking strongly modifies the association of LOC387715 and age-related macular degeneration. Am J Hum Genet. 2006;78(5):852-864. doi:10.1086/503825
Askham JM, Eastman SW, Briggs KP, et al. The RB-CDK pathway negatively regulates protein sumoylation. Oncogene. 2009;28(13):1282-1292. doi:10.1038/onc.2008.490
Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleeson JG. ADGF changes ASD| Humans + Variants. In: Mardis ER, ed. Catalog of Somatic Mutations in Cancer (COSMIC). Bath, UK: Wellcome Trust Sanger Institute; 2020. doi:10.1038/s41586-019-1799-2
Kauffman MA, Rhee DY, Kobayashi A, et al. Microcephaly, congenital heart disease, and intellectual disability caused by mutations in the ASPM gene. Am J Hum Genet. 2004;75(5):952-966. doi:10.1086/425589
OMIM Gene – 605481 – Autosomal recessive primary microcephaly 5. National Center for Biotechnology Information. Accessed August 26, 2021. https://www.ncbi.nlm.nih.gov/gene/605481
OMIM Gene – 600623 – Aging. National Center for Biotechnology Information. Accessed August 26, 2021. https://www.ncbi.nlm.nih.gov/gene/600623
Catalog of Genes and Diseases (CGD): ASPM. National Human Genome Research Institute. Accessed August 26, 2021. https://www.genome.gov/catalog/genes/GC01P041147
Lee AJX, Wang Z, Singh S, et al. DNAJC13 mutations in Parkinson disease. Nat Genet. 2018;50(6):834-835. doi:10.1038/s41588-018-0127-y