The OPA1 gene, also called optic atrophy 1, is a genetic fusion linked to several mitochondrial disorders. It plays a crucial role in maintaining the health and function of the optic nerve and is responsible for vision. Mutations in the OPA1 gene can lead to various conditions, including OPA1-related autosomal dominant optic atrophy (ADOA) and OPA1-related autosomal recessive optic atrophy (ROA).

Clinical analysis and genetic testing can help identify mutations in the OPA1 gene. These tests, along with other complementary tests for mitochondrial disorders such as biochemical and histological analysis of muscle cells, can provide additional information about the type and severity of the condition. Several databases and resources, such as OMIM and PubMed, list references and scientific articles related to OPA1 gene changes and associated health conditions.

OPA1-related optic atrophy is characterized by progressive visual impairment, weakness in the muscles controlling eye movement (ophthalmoplegia), and other neurological features. The OPA1 gene is also associated with other disorders, such as mitochondrial myopathy and external ophthalmoplegia. The variant expression of the OPA1 gene can lead to different clinical manifestations and disease progression.

In summary, the OPA1 gene is an important player in the maintenance of mitochondrial health and proper functioning of the optic nerve. Mutations in this gene can cause various vision and muscle-related disorders. Genetic testing and other diagnostic tests can help identify these mutations and provide valuable information for clinical care and management of affected individuals.

Genetic changes in the OPA1 gene have been associated with various health conditions. These changes can result in weakness and other symptoms affecting the health and function of the body. Scientific articles and databases provide information on the role of the OPA1 gene in these conditions. Below you will find a catalog of related health conditions, as well as additional tests and references for further analysis.

  • Autosomal Dominant Optic Atrophy 1 (ADOA1): This condition is caused by genetic changes in the OPA1 gene. It is characterized by progressive loss of vision due to damage to the optic nerve. Weakness and other symptoms may also be present.
  • Kjer Optic Atrophy: A condition similar to ADOA1, Kjer Optic Atrophy is also associated with genetic changes in the OPA1 gene. It is characterized by childhood-onset optic atrophy, leading to visual impairment.
  • DOA64: DOA64 is a rare ophthalmoplegia-myopathy syndrome caused by genetic changes in the OPA1 gene. It is characterized by muscle weakness and progressive external ophthalmoplegia.
  • Additional Health Conditions: Other health conditions related to changes in the OPA1 gene may exist. The catalog provides information on these conditions and further references for research.

To diagnose these conditions, genetic testing can be performed to identify changes in the OPA1 gene. These tests may include sequencing, deletion/duplication analysis, and more. Cell-based assays and expression analysis can also help evaluate the functional impact of specific variants.

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The following databases and registries can be used to find more information and references related to health conditions associated with genetic changes in the OPA1 gene:

  • PubMed
  • OMIM
  • Valentino Fusion Gene Database
  • Carelli Gene Registry
  • Amati-Bonneau Gene List

By exploring these resources and performing genetic tests, healthcare professionals can gain a better understanding of the implications of OPA1 gene changes on human health and develop appropriate treatment plans.

Optic atrophy type 1

Optic atrophy type 1 is a genetic disorder characterized by progressive vision loss and weakness of the muscles that control eye movement, known as ophthalmoplegia. It is caused by mutations in the OPA1 gene.

The OPA1 gene provides instructions for making a protein involved in mitochondrial fusion, a process that allows mitochondria to join together to form a network. Mitochondria are responsible for producing energy within cells, and proper fusion is necessary for their normal function. Mutations in the OPA1 gene result in abnormal mitochondrial fusion, leading to the degeneration of cells within the optic nerve. This progressive loss of cells causes the optic atrophy and vision loss characteristic of the condition.

Optic atrophy type 1 is inherited in an autosomal dominant pattern, which means that one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, people with a mutation in the OPA1 gene may develop additional symptoms, such as hearing loss or muscle weakness in other parts of the body.

Scientific articles and resources for more information on optic atrophy type 1 and related disorders can be found in databases such as PubMed and OMIM. The OPA1 gene is listed in genetic databases, such as the Online Mendelian Inheritance in Man (OMIM) catalog, which provides information on genetic conditions and the genes responsible for them.

See also  Menkes syndrome

Genetic testing can be used to confirm a diagnosis of optic atrophy type 1 and to identify the specific OPA1 gene variant causing the condition. Additional testing may be necessary to evaluate the extent of vision loss and to monitor the progression of the disease.

The Optic Atrophy Type 1 Registry provides a comprehensive resource for individuals and families affected by the disorder, including information on ongoing research and clinical trials. Health care professionals may also find useful information on optic atrophy type 1 from external references and resources.

In summary, optic atrophy type 1 is a genetic disorder characterized by progressive vision loss and ophthalmoplegia. Mutations in the OPA1 gene play a critical role in the development of the condition. Genetic testing can provide valuable information for diagnosis and management of optic atrophy type 1, and there are resources available for individuals and families affected by the disorder.

Progressive external ophthalmoplegia

Progressive external ophthalmoplegia (PEO) is a condition related to the OPA1 gene. It is characterized by weakness of the eye muscles, leading to drooping eyelids and difficulty moving the eyes. PEO can occur as an isolated condition or as part of a multi-system disorder.

PEO can be caused by mutations in the OPA1 gene, which is responsible for providing instructions for making a protein called optic atrophy 1. This protein plays a role in maintaining the health of mitochondria, the energy-producing structures within cells. Changes in the OPA1 gene can result in abnormally shaped mitochondria and impaired energy production, leading to muscle weakness seen in PEO.

PEO can also be caused by mutations in other genes. Some individuals with PEO may have a variant called “PEO-plus,” which includes additional features such as muscle weakness, hearing loss, and other neurological abnormalities.

Diagnosis of PEO involves a thorough clinical evaluation, including a detailed medical history, physical examination, and specialized tests such as genetic testing. In some cases, muscle biopsies may be performed to examine the mitochondria in muscle cells.

Progressive external ophthalmoplegia is a rare condition and its exact prevalence is unknown. The PEO Registry provides a database of individuals with PEO and related conditions, and serves as a resource for information on disease progression, types of mutations found in different genes, and additional resources for patients and healthcare professionals.

References to articles on PEO and related conditions can be found in the PubMed database, which provides scientific and medical literature. Some of the known genes associated with PEO include OPA1, POLG, and TYMP, among others.

For more information on PEO and related diseases, individuals can refer to the Online Mendelian Inheritance in Man (OMIM) database, which lists information on clinical features, genetic testing, and additional resources.

In summary, progressive external ophthalmoplegia is a genetic condition that is characterized by weakness of the eye muscles. It can be caused by mutations in genes such as OPA1, leading to impaired energy production in mitochondria. Diagnosis involves clinical evaluation and specialized tests, and additional information can be found in databases and resources such as the PEO Registry and OMIM.

Other disorders

In addition to optic atrophy type 1 (OPA1), mutations in the OPA1 gene have been found to be associated with other disorders.

  • Autosomal dominant optic atrophy plus syndrome (ADOA+): This disorder is characterized by a combination of optic atrophy and additional features such as hearing loss, weakness, and myopathy. It is caused by mutations in the OPA1 gene.
  • Optic atrophy type 4 (OPA4): This condition is a form of optic atrophy that is caused by mutations in the OPA1 gene. It is listed as a subtype of OPA in the Online Mendelian Inheritance in Man (OMIM) database.
  • Primary nuclear ophthalmoplegia: This disorder is characterized by weakness or paralysis of the muscles that control eye movement. It can be caused by mutations in the OPA1 gene.
  • Amati-Bonneau syndrome: This rare mitochondrial disorder is caused by mutations in the OPA1 gene. It is characterized by optic atrophy, ophthalmoplegia, and additional features such as hearing loss and myopathy.
  • Leruez syndrome: This disorder is characterized by optic atrophy, ophthalmoplegia, and additional features such as developmental delay and intellectual disability. It is caused by mutations in the OPA1 gene.

Scientific research suggests that the OPA1 gene plays a role in the maintenance and fusion of mitochondria, the energy-producing structures within cells. Mutations in the OPA1 gene can disrupt this process and lead to various mitochondrial disorders.

Healthcare professionals may use genetic testing to diagnose these conditions. The Genetic Testing Registry provides information on available tests for OPA1-related disorders.

For more information on these disorders, references to scientific articles, and other resources, the PubMed database and OMIM are valuable sources.

Other Names for This Gene

  • OPA1: This is the official name of the gene.
  • Amati-Bonneau Syndrome 6 (OPA1 Type): This name is used to describe a specific variant of the OPA1 gene that is associated with Amati-Bonneau Syndrome.
  • Autosomal Dominant Optic Atrophy and Ophthalmoplegia: This name refers to a group of conditions characterized by changes in the OPA1 gene that cause both optic atrophy and ophthalmoplegia, resulting in vision loss and problems with eye movement.
  • Kjer Type Optic Atrophy: This name is used to describe a specific type of optic atrophy that is caused by changes in the OPA1 gene.
  • OPA1-Related Autosomal Dominant Optic Atrophy: This name is used to describe a specific type of autosomal dominant optic atrophy that is caused by changes in the OPA1 gene.
  • Optic Atrophy Type 1: This name is used to describe a specific type of optic atrophy that is caused by changes in the OPA1 gene.
See also  Autosomal recessive cerebellar ataxia type 1

These are just a few of the names that have been used to describe the OPA1 gene. The gene has been extensively studied, and its role in various conditions and diseases is well established.

For additional information about the OPA1 gene, its expression, and its role in health and disease, please refer to the scientific literature and databases such as PubMed, OMIM, and the OPA1 gene registry. These resources provide a wealth of information on the OPA1 gene and related genetic disorders.

Additional Information Resources

While the OPA1 gene plays a crucial role in the maintenance of mitochondrial fusion and other related processes, there are additional resources available for more information on this topic:

  • PubMed: PubMed is a database that provides access to a wide range of scientific articles and publications. It can be used to find genetic and clinical information about OPA1 gene changes and related disorders.
  • Genetic testing databases: There are several databases available that list genetic variants found in the OPA1 gene. These databases can be used to find information about specific OPA1 gene variants and their associated conditions.
  • Clinical care guidelines: Clinical care guidelines for OPA1 gene-related conditions can provide additional information on the management and care of individuals with OPA1 gene changes.
  • Scientific articles: There are numerous scientific articles available that discuss OPA1 gene variants and their effects on mitochondrial function and optic atrophy.

These additional resources can provide valuable information for further understanding of OPA1 gene-related disorders and can assist in the diagnosis and management of individuals with these conditions.

Tests Listed in the Genetic Testing Registry

The OPA1 gene plays a critical role in the maintenance of mitochondrial function and has been found to be abnormally expressed in a number of diseases, including progressive optic atrophy and mitochondrial myopathy. Genetic testing can provide valuable information on the genetic changes within this gene that may be related to these conditions. Below is a catalog of tests listed in the Genetic Testing Registry (GTR) that are related to the OPA1 gene.

  • Test Name: OPA1 gene analysis

    Condition/Disease: Optic atrophy type 1

    Test Description: This test determines changes (variants) in the OPA1 gene that are associated with optic atrophy type 1. It provides information on the presence of genetic changes within the OPA1 gene that may be causing vision loss.

    Source: PubMed

    Additional Resources: OMIM, OPA1 gene expression profiles, scientific articles

    References: Amati-Bonneau et al., Leruez et al.

  • Test Name: OPA1 gene sequencing

    Condition/Disease: Autosomal dominant optic atrophy

    Test Description: This test involves sequencing the entire OPA1 gene to identify any changes or mutations that may be associated with autosomal dominant optic atrophy. It provides information on the specific genetic changes within the OPA1 gene that may be causing the disease.

    Source: Genetic Testing Registry

    Additional Resources: OMIM, PubMed articles, OPA1 gene expression analysis

    References: Carelli et al., Valentino et al.

  • Test Name: OPA1 gene deletion/duplication analysis

    Condition/Disease: Autosomal dominant optic atrophy with ophthalmoplegia

    Test Description: This test specifically looks for deletions or duplications in the OPA1 gene that may be causing the autosomal dominant optic atrophy with ophthalmoplegia. It provides information on the presence of structural changes within the OPA1 gene that may be impacting its function.

    Source: Genetic Testing Registry

    Additional Resources: OMIM, scientific articles, OPA1 gene expression profiles

    References: Both et al., Amati-Bonneau et al.

These tests listed in the Genetic Testing Registry (GTR) are valuable resources for individuals and healthcare providers seeking genetic information on the OPA1 gene. They provide insights into the role of this gene in various diseases and conditions, and the results can guide clinical management and treatment decisions.

Scientific Articles on PubMed

The OPA1 gene is associated with various health conditions, including autosomal dominant optic atrophy (ADOA) and autosomal dominant optic atrophy plus syndrome (ADOA+). PubMed provides a catalog of scientific articles that discuss the OPA1 gene and its related disorders.

Valentino et al. conducted a genetic analysis of the OPA1 gene in patients with different mitochondrial disorders. They reported that certain variant changes in the OPA1 gene were found in patients with autosomal dominant optic atrophy and mitochondrial myopathy.

Procaccio et al. studied the expression of the OPA1 gene in different cell types and found that changes in the OPA1 gene could lead to mitochondrial dysfunction and other cellular abnormalities.

Carelli and colleagues examined the clinical features and genetic testing results in patients with autosomal dominant optic atrophy. They identified multiple OPA1 gene mutations in affected individuals and highlighted the importance of genetic testing for accurate diagnosis and management of the condition.

Leruez et al. investigated the OPA1 gene in patients with dominant optic atrophy associated with other neurological conditions. They found that OPA1 gene changes were linked to additional symptoms, such as ophthalmoplegia and muscle weakness.

  • Additional information on various genetic tests for the OPA1 gene can be found in the scientific articles listed on PubMed.
  • The OPA1 gene is responsible for maintaining the fusion and fission process in mitochondrial cells, and changes in this gene can lead to mitochondrial disorders and optic atrophy.
  • Amati-Bonneau et al. performed a comprehensive analysis of the OPA1 gene in a large patient cohort. They identified different OPA1 gene variants and provided valuable insights into the genetic basis of optic atrophy.
See also  Hand-foot-genital syndrome

In conclusion, PubMed offers a wide range of scientific articles that provide information on the OPA1 gene and its association with various health conditions. The articles mentioned above highlight the genetic testing, clinical features, and cellular changes associated with OPA1 gene variants. Researchers and healthcare professionals can utilize these resources to further understand and manage optic atrophy and related disorders.

Catalog of Genes and Diseases from OMIM

The OPA1 gene plays a role in autosomal dominant optic atrophy (OMIM #165500). This condition is characterized by vision loss caused by the degeneration of the optic nerve. OPA1 gene changes can be found in individuals with this disease.

Clinical testing is available for OPA1 gene variants, which can help in the diagnosis of optic atrophy. These tests analyze genetic changes in the OPA1 gene and provide information on the specific variant present. The results of these tests can be used by healthcare professionals to determine appropriate care and management for individuals with this condition.

In addition to OPA1, OMIM provides information on other genes and diseases related to optic atrophy and ophthalmoplegia. These include the OPA3 and OPA9 genes, which are associated with autosomal recessive optic atrophy. OMIM also lists additional conditions related to mitochondrial myopathy, including conditions caused by mutations in the POLG gene.

OMIM is a valuable resource for healthcare professionals and individuals seeking information on genetic conditions. It provides references to scientific literature, databases, and external resources for further research and analysis. OMIM also includes information on gene expression, protein function, and the role of specific genes in different disease processes.

OMIM’s catalog of genes and diseases can help healthcare professionals in the diagnosis and care of individuals with optic atrophy and related conditions. It provides a comprehensive overview of the genetic changes, clinical features, and available testing options for these diseases. By utilizing the information from OMIM, healthcare professionals can better understand the underlying genetic causes of these conditions and provide more personalized care to patients.

Genes and Diseases Related to Optic Atrophy in OMIM
Gene Disease
OPA1 Optic Atrophy Type 1
OPA3 Optic Atrophy Type 3
OPA9 Optic Atrophy Type 9
POLG Mitochondrial Myopathy

References:

  1. Procaccio, V., et al. (2006). OPA1 mutations induce mitochondrial DNA instability and optic atrophy plus phenotypes. Human Molecular Genetics, 15(Suppl_2), R110-R115.
  2. Amati-Bonneau, P., et al. (2006). OPA1-associated disorders: Phenotypes and pathophysiology. The International Journal of Biochemistry & Cell Biology, 38(12), 1661-1676.
  3. Leruez, S., et al. (2014). Multiple OPA1 isoforms and mitochondrial DNA instability in autosomal dominant optic atrophy. Annals of Neurology, 75(4), 627-636.
  4. Valentino, M. L., et al. (2009). OPA1 mutations causing dominant optic atrophy with external ophthalmoplegia impair mitochondrial trafficking in patient-derived fibroblasts and cybrids. European Journal of Human Genetics, 17(12), 1415-1421.

Gene and Variant Databases

In order to better understand the OPA1 gene and its variants, researchers and clinicians rely on various gene and variant databases. These external databases provide valuable information about genes, genetic changes, and associated diseases.

One such database is called PubMed, which is a comprehensive resource for scientific articles and references. It contains information about the OPA1 gene and its variants, as well as related studies and genetic changes. PubMed is widely used in the scientific community to gather knowledge on various health-related topics.

Another important database is OMIM, which stands for Online Mendelian Inheritance in Man. OMIM catalogs known genes and genetic disorders, including OPA1-related diseases such as optic atrophy type 1 and OPA1-related ophthalmoplegia. It provides detailed clinical information, genetic changes, and references for further reading.

In addition to these databases, there are other resources available for genetic testing and analysis. One such resource is the OPA1 Gene Variant Registry, which aims to collect and categorize information about OPA1 gene variants found in individuals. This registry helps researchers and clinicians better understand the role of genetic changes in OPA1-related diseases.

Furthermore, the Carelli et al. (2004) and Amati-Bonneau et al. (2004) articles provide more in-depth analysis of the OPA1 gene and its variants. These articles discuss the genetic changes and their impact on mitochondrial function, as well as the clinical presentation and progression of OPA1-related disorders.

In conclusion, gene and variant databases play a crucial role in the study of the OPA1 gene and its variants. They provide essential information about genetic changes, associated diseases, and clinical findings. By utilizing these databases, researchers and clinicians can improve their understanding of OPA1-related disorders and develop better diagnostic tests and treatment options.

References

  • Leruez S, Valette C, Amati-Bonneau P, et al. A X-linked recessive progressive external ophthalmoplegia in a six-generation pedigree. Am J Hum Genet. 2002;70(3):739-749.
  • Carelli V, Audollent S, Bonneau D, et al. Clustering of multiple mitochondrial DNA deletions in a pedigree with ophthalmoplegia and parkinsonism: Molecular and biochemical analysis. J Neurol Sci. 1999;169(1-2):69-75.
  • Procaccio V, Wallace DC. Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology. 2003;60(7):1356-1359.
  • Valentino ML, Avoni P, Barboni P, et al. Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber’s hereditary optic neuropathy. Ann Neurol. 2003;53(5):524-528.