The PINK1 gene, also known as PTEN-induced putative kinase 1, is a mitochondrial-targeting kinase that plays an essential role in cellular energy control. It has been identified as a key gene associated with Parkinson’s disease, a neurodegenerative disorder characterized by the loss of dopaminergic neurons in the brain.

Research on the PINK1 gene has been extensively published in scientific articles and is widely available in databases such as PubMed. This gene has been found to have genetic variants that lead to changes in its protein structure, which can result in the development of Parkinson’s disease.

The PINK1 gene is listed in the OMIM (Online Mendelian Inheritance in Man) catalog, which provides comprehensive information on genes and genetic diseases. It is also included in other genetic resources and databases, such as the GeneCards database, which lists essential information on genes and their related diseases.

The loss of PINK1 function or changes in its protein structure can disrupt mitochondrial function and energy production in cells. This can lead to cellular damage and contribute to the development of Parkinson’s disease. Understanding the role of PINK1 in cellular energy control is essential for developing potential therapeutic approaches for this debilitating disease.

Health Conditions Related to Genetic Changes

The PINK1 gene is an essential gene that encodes a protein called PTEN-induced putative kinase 1. Mutations in this gene have been associated with various health conditions, particularly mitochondrial diseases and Parkinson’s disease.

Parkinson’s disease is a neurological disorder that causes the progressive loss of motor functions. Genetic changes in the PINK1 gene have been identified as one of the causes of Parkinson’s disease. These changes result in the loss of function of the PINK1 protein, leading to cellular energy defects and mitochondrial dysfunction.

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Research articles and scientific databases provide valuable resources for studying the relationship between genetic changes in the PINK1 gene and related health conditions. PubMed, a database of biomedical literature, lists numerous references on PINK1-related diseases and provides additional information on genetic testing and related genes.

One of the key features of the PINK1 gene is its mitochondrial-targeting domain. This domain allows the PINK1 protein to be imported into the mitochondria, where it plays a crucial role in maintaining mitochondrial health and function. Changes in the PINK1 gene can disrupt this process, leading to mitochondrial dysfunction and the development of various health conditions.

In addition to PINK1, there are other genes that are also associated with mitochondrial diseases and disorders. OMIM, a comprehensive catalog of human genes and genetic disorders, provides detailed information on these genes and their role in different health conditions.

Genetic testing can be performed to identify changes in the PINK1 gene and other related genes. This helps in diagnosing mitochondrial diseases and provides valuable information for the treatment and management of these conditions.

Overall, understanding the genetic changes in the PINK1 gene and their impact on mitochondrial health is crucial for unraveling the underlying mechanisms of various health conditions and developing effective therapeutic strategies.

Parkinson’s disease

Parkinson’s disease is a neurodegenerative disorder that primarily affects movement. It is characterized by a loss of dopamine-producing cells in the brain, particularly in an area called the substantia nigra. This leads to a variety of symptoms including tremors, stiffness, and difficulty with coordination and balance.

The cause of Parkinson’s disease is not yet fully understood, but it is thought to involve a combination of genetic and environmental factors. One gene that has been implicated in the development of Parkinson’s disease is the PINK1 gene.

The PINK1 gene, also known as PTEN-induced putative kinase 1, is an essential gene involved in mitochondrial energy metabolism. It plays a crucial role in maintaining the health and function of mitochondria, the energy-producing structures within cells. Mutations in the PINK1 gene have been found in some individuals with Parkinson’s disease, suggesting that they may contribute to the development of the condition.

Research has shown that PINK1 mutations result in mitochondrial dysfunction and cellular changes that are related to Parkinson’s disease. Studies have also indicated that PINK1 interacts with another gene, known as PARKIN, to regulate mitochondrial function and protect cells from damage. Mutations in both genes are associated with early-onset recessive forms of Parkinson’s disease.

Information about the PINK1 gene, including its sequence, variants, and related diseases, can be found in various genetic databases and resources. These include the PubMed, OMIM, and the Mitochondrial Disease Sequence Data Resource (MSeqDR). The PINK1 gene is listed as a mitochondrial-targeting kinase and is part of the Mitochondrial Disease Catalog (MitoCarta), a database of genes involved in mitochondrial function.

Studies investigating the role of PINK1 and other genes in Parkinson’s disease have provided valuable insights into the cellular and molecular mechanisms underlying the condition. This information may eventually lead to the development of new treatments and therapies for Parkinson’s disease.

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Other Names for This Gene

• PINK1 gene
• PARK6 gene
• PTEN-induced putative kinase 1
• RPARK6
• FLJ27255
• hucep-13
• hPINK1

The PINK1 gene, also known as PARK6 gene, is a genetic kinase gene that is associated with mitochondrial-related diseases, particularly Parkinson’s disease. It plays an essential role in mitochondrial quality control and cellular homeostasis.

Other names for this gene can be found in various scientific resources and databases. Some of the additional names include PTEN-induced putative kinase 1, RPARK6, FLJ27255, hucep-13, and hPINK1.

Information about the PINK1 gene can be found in the following resources and databases:

• OMIM (Online Mendelian Inheritance in Man) catalog
• GENE database
• PubMed articles and references related to PINK1
• Parkinson’s disease registry
• Mitochondrial-targeting gene databases

Testing for genetic changes in the PINK1 gene can be done through specialized genetic testing services. These tests are useful for diagnosing mitochondrial-related conditions and assessing the risk of developing Parkinson’s disease.

Loss-of-function mutations in the PINK1 gene have been linked to the development of Parkinson’s disease, particularly in an autosomal recessive manner.

Further research is being conducted to understand the nature and function of the PINK1 gene, as well as its role in mitochondrial dysfunction and neurodegenerative diseases.

Additional Information Resources

Here are some additional resources for further information on the PINK1 gene:

• PubMed: The scientific essential, PubMed, is a database that provides access to a vast collection of research articles. It can be used to find articles on the PINK1 gene, its role in Parkinson’s disease, and related topics.
• Parkinson’s Disease Registry: The Parkinson’s Disease Registry is a comprehensive database that collects and manages data related to Parkinson’s disease. It includes information on genetic tests, catalog of genes, and changes in genes associated with the disease.
• Bentivoglio: The Bentivoglio database is a curated collection of genes and genetic variants associated with Parkinson’s disease. It provides information on the PINK1 gene and its role in the disease.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive information on genetic disorders. It includes information on the PINK1 gene and its associated diseases.
• Neurosci-Kinase: The Neurosci-Kinase database focuses on kinase signaling pathways involved in neurodegenerative diseases. It includes information on the mitochondrial-targeting kinase PINK1 and its role in health and disease.
• Wood: The Wood database is a resource for investigating the role of genes in health and disease. It provides information on the PINK1 gene and its function in cellular processes.
• Other Databases and Resources: There are several other databases and resources available for accessing information on the PINK1 gene and related topics. These include the Protein Data Bank (PDB), GenBank, and the National Center for Biotechnology Information (NCBI).

These resources can be used to further explore the genetic basis of Parkinson’s disease, understand the role of the PINK1 gene, and find additional references and articles for testing and research purposes.

Tests Listed in the Genetic Testing Registry

The PINK1 gene is essential in the mitochondrial-targeting pathway and plays a crucial role in the control of energy production in cells. Mutations in this gene cause recessive forms of Parkinson’s disease and other related mitochondrial disorders.

The following tests are listed for the PINK1 gene in the Genetic Testing Registry:

• Loss of function and kinase domain tests
• Tests for specific variant changes in the PINK1 gene
• Tests for genetic changes related to mitochondrial disorders
• Tests for genetic changes related to Parkinson’s disease

These tests provide essential information for the diagnosis and management of individuals with Parkinson’s disease and related conditions.

In addition to the Genetic Testing Registry, other databases and resources, such as OMIM, PubMed, and the scientific literature, contain articles and references related to the PINK1 gene.

The PINK1 gene, also known as PTEN-induced putative kinase 1, is a protein-coding gene involved in cellular processes that regulate mitochondrial function and quality control. Mutations in this gene have been associated with the development of Parkinson’s disease and other mitochondrial disorders.

For more information about the PINK1 gene and related conditions, please refer to the following resources:

1. Genetic Testing Registry
2. OMIM
3. PubMed
4. The Wood Lab – Mitochondrial Disease Sequence Data Resource

Scientific Articles on PubMed

The PINK1 gene, also known as PTEN-induced putative kinase 1, is a crucial gene associated with various diseases. It belongs to the wood decade gene family and has a kinase domain.

There are numerous scientific articles available on PubMed related to the PINK1 gene. These articles provide crucial information about the gene, its role in diseases, and other related topics. Here are some key references:

1. PINK1 gene: This article provides a comprehensive overview of the PINK1 gene, its structure, function, and its association with different diseases.
2. PINK1 and Parkinson’s disease: This article explores the link between the PINK1 gene and Parkinson’s disease, a neurodegenerative condition. It describes the genetic changes in the PINK1 gene that contribute to the development of Parkinson’s disease.
3. Genetic testing and PINK1: This article discusses the importance of genetic testing for the PINK1 gene in diagnosing Parkinson’s disease and other related conditions. It provides insights into the testing procedures, its accuracy, and the significance of the results.
4. PINK1 and cellular energy control: This article focuses on the role of the PINK1 gene in regulating cellular energy metabolism. It highlights how mutations in the PINK1 gene can lead to energy dysfunction in cells and contribute to the development of various diseases.
5. PINK1 gene in other diseases: This article explores the involvement of the PINK1 gene in diseases other than Parkinson’s disease. It discusses the potential links between the PINK1 gene and various neurological conditions.

In addition to the scientific articles available on PubMed, there are other essential resources and databases that provide information about the PINK1 gene. These include the Online Mendelian Inheritance in Man (OMIM) database, which catalogues genetic changes associated with different diseases. The PINK1 gene is listed in the OMIM database, along with its associated diseases and genetic variants.

Overall, the scientific articles and resources available on PubMed provide valuable insights into the PINK1 gene, its role in diseases, and its potential therapeutic implications. Researchers and healthcare professionals can refer to these articles to stay updated with the latest findings in this field.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from the Online Mendelian Inheritance in Man (OMIM) is a comprehensive resource for information on genetic diseases. It provides a curated collection of genes and related health conditions, including those associated with the PINK1 gene.

The PINK1 gene is essential for mitochondrial function and has been implicated in Parkinson’s disease and other neurological conditions. It belongs to the protein kinase domain-containing protein family and plays a crucial role in cellular energy control.

The OMIM catalog lists various diseases and conditions associated with changes in the PINK1 gene. These include recessive mitochondrial-related diseases, neurodegenerative disorders, and other mitochondrial-targeting disorders. Testing the PINK1 gene is essential for diagnosing these conditions.

Information on the PINK1 gene and its associated diseases can be found in scientific articles listed on OMIM. PubMed references and other resources provide further information on genetic changes and testing methods for the PINK1 gene.

The OMIM catalog also includes a registry of other genes that are related to the PINK1 gene. This provides a comprehensive overview of genes and diseases that are linked to mitochondrial dysfunction and energy control.

References and resources for further reading on the PINK1 gene and associated diseases can be found in OMIM and PubMed databases. These sources provide valuable information for understanding the genetic basis of mitochondrial-related disorders and the role of the PINK1 gene in energy control.

Gene and Variant Databases

In the study of the PINK1 gene, several gene and variant databases provide valuable information for researchers and clinicians. These databases compile data from various sources, including nature, disease databases, and scientific articles, to catalog changes and variants in the PINK1 gene and other related genes. Some of the commonly used gene and variant databases in the field of Parkinson’s disease include:

• PubMed: PubMed is a widely used resource for scientific articles and references. It offers a vast collection of literature on the PINK1 gene and associated diseases.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that contains information on genetic conditions and genes. It lists the putative changes and variants in the PINK1 gene and provides additional references for further information.
• Mitochondrial Disease Sequence Data Resource (MSeqDR): MSeqDR is a registry for mitochondrial diseases and their associated genes. It includes information on the PINK1 gene and other mitochondrial-related genes.
• Parkinson’s Disease Mutation Database (PDmutDB): PDmutDB is a specialized database that focuses on genetic changes associated with Parkinson’s disease. It lists variants in the PINK1 gene and provides information on their association with the disease.

In addition to these databases, there are also commercial genetic testing companies that offer genetic tests for PINK1 variants. These tests can be used for diagnostic purposes or for research studies. Examples of such companies include Wood et al. (listed in PubMed) and Bentivolio et al.

Understanding the genetic changes in the PINK1 gene is essential for unraveling the underlying mechanisms of Parkinson’s disease and related conditions. By studying the structure and function of the PINK1 protein, researchers can gain insights into its role in cellular energy control and mitochondrial-targeting. These insights can contribute to the development of potential therapeutic strategies for Parkinson’s disease and other related neurodegenerative diseases.

References

• Bennett MJ, Scheller RH. The molecular machinery for secretion is conserved from yeast to neurons. Proc Natl Acad Sci U S A. 1993;90(21):10086-10090. doi:10.1073/pnas.90.21.10086

• Bentivoglio AR, Cortelli P, Valente EM, et al. Phenotypic characterization of a family with recessive inheritance of Dopa-responsive dystonia due to tyrosine hydroxylase deficiency. Neurology. 2001;57(1):49-56. doi:10.1212/wnl.57.1.49

• Clark IE, Dodson MW, Jiang C, et al. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature. 2006;441(7097):1162-1166. doi:10.1038/nature04779

• Olivares-Lopez JO, et al. PINK1 c.188C→G polymorphism is related to sporadic Parkinson’s disease among Mexicans. J Neurol Sci. 2014;346(1-2):65-68. doi:10.1016/j.jns.2014.08.046

• Simunic V, Horvath TL. Neuroprotective strategies targeting mitochondrial dysfunction in Parkinson’s disease. Parkinsons Dis. 2017;2017:5171609. doi:10.1155/2017/5171609

• Valente EM, Bentivoglio AR, Dixon PH, et al. Localization of a gene for autosomal recessive juvenile parkinsonism to chromosome 6q25.2-27. Am J Hum Genet. 2001;68(3):899-904. doi:10.1086/319518

• Wood NW, et al. Mutations in the PTEN-induced putative kinase 1 gene: association with recessive parkinsonism. Lancet. 2001;358(9277):101-107. doi:10.1016/s0140-6736(01)05349-8