Kearns-Sayre syndrome

Published Categorized as Genetics
Kearns-Sayre syndrome

Kearns-Sayre syndrome is a rare mitochondrial disorder that affects individuals usually before the age of 20. It is named after the scientists who first described this condition in 1958, Dr. Thomas P. Kearns and Dr. George P. Sayre.

This syndrome is caused by mutations in the mitochondrial DNA, specifically in the genes responsible for the production of proteins involved in mitochondrial function. The exact cause of these mutations is still unknown, but they are thought to occur spontaneously in most cases. Some individuals with Kearns-Sayre syndrome have large deletions in their mitochondrial DNA, while others have point mutations in specific genes associated with mitochondrial function.

Individuals with Kearns-Sayre syndrome often experience a variety of clinical symptoms, including progressive external ophthalmoplegia (weakness or paralysis of the eye muscles), heart conduction defects, and difficulties in coordinating movements (ataxia). In addition, they may develop other neurological and endocrine abnormalities. The severity and progression of symptoms can vary widely from person to person.

At present, there is no known cure for Kearns-Sayre syndrome. However, there are resources available to support individuals and their families in managing the condition. Genetic testing can help confirm a diagnosis of Kearns-Sayre syndrome and provide more information about the specific mutations involved. Clinical trials and research studies are also ongoing to learn more about this rare disorder and develop potential treatments.

For more information about Kearns-Sayre syndrome, you may visit websites such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources provide scientific articles and references about the syndrome, as well as information on ongoing research and clinical trials. Furthermore, advocacy organizations and patient support groups can provide additional information, support, and resources for individuals and families affected by Kearns-Sayre syndrome.

Frequency

Kearns-Sayre syndrome is a rare condition that affects multiple systems in the body. It is estimated to occur in about 1 in every 100,000 individuals.

While Kearns-Sayre syndrome is rare, it is also important to note that the frequency may vary depending on the population being studied and the criteria used for diagnosis.

In most cases, Kearns-Sayre syndrome is caused by deletions in mitochondrial DNA, specifically a large deletion known as “common deletion.” This deletion can affect the normal functioning of mitochondria, leading to the symptoms and characteristics of the syndrome.

Advocacy groups and research centers have cataloged information on rare diseases, including Kearns-Sayre syndrome. They provide valuable resources for patients and families seeking more information and support:

  • The Kearns-Sayre Syndrome Foundation provides articles and information on the syndrome.
  • The National Institute of Neurological Disorders and Stroke (NINDS) has information and resources on Kearns-Sayre syndrome.
  • The Online Mendelian Inheritance in Man (OMIM) database provides information on rare genetic disorders.

There have been studies and research on Kearns-Sayre syndrome to better understand its causes and consequences. Some known causes include mutations in nuclear genes that are associated with mitochondrial function and phosphorylation. These genes play a role in the production of energy within cells, particularly in muscle tissue.

Diagnostic testing for Kearns-Sayre syndrome usually involves genetic testing to identify the presence of the common deletion or mutations in nuclear genes associated with the condition. Clinical trials may also be available for individuals diagnosed with Kearns-Sayre syndrome, and information about ongoing trials can be found on clinicaltrialsgov.

For more information and support on Kearns-Sayre syndrome, the following resources can be helpful:

  • The United Mitochondrial Disease Foundation offers support and information for individuals with mitochondrial diseases.
  • PubMed, a database of scientific articles, provides access to research on Kearns-Sayre syndrome and related topics.

Learning more about the frequency, causes, and consequences of Kearns-Sayre syndrome is important for individuals and families affected by this rare condition. By accessing the available resources and staying informed, patients and their families can better understand the condition and seek appropriate care and support.

Causes

The Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder associated with a number of genetic mutations. These mutations affect the genes responsible for the normal functioning of mitochondria, the cellular powerhouses responsible for generating energy.

KSS is typically caused by large-scale mitochondrial DNA (mtDNA) deletions, although other mtDNA mutations can also be responsible. In most cases, these mutations occur spontaneously and are not inherited from the parents. However, rare cases of KSS have been associated with inherited mutations.

There are several genes known to be associated with Kearns-Sayre syndrome, including the genes MT-ND1, MT-ND4, and MT-ND5. These genes code for proteins involved in mitochondrial function and energy production. Additional genes and mutations have also been identified in rare cases of KSS.

Research into the causes of Kearns-Sayre syndrome is ongoing, and more information about the genetic basis of the condition can be found in scientific articles and research studies. The OMIM database (Online Mendelian Inheritance in Man) and PubMed are excellent resources for learning more about the genes and mutations associated with KSS.

Diagnostic testing for Kearns-Sayre syndrome usually involves analyzing the patient’s mtDNA for deletions or mutations. This can be done through genetic testing, which may be available through specialized testing centers or commercial laboratories. The results of these tests can help confirm a diagnosis of KSS, along with clinical symptoms and other information.

Individuals diagnosed with Kearns-Sayre syndrome may also benefit from additional support and resources. Advocacy organizations, such as the United Mitochondrial Disease Foundation, can provide information, support, and resources for individuals and families affected by KSS. ClinicalTrials.gov may also provide information about ongoing research studies and clinical trials related to Kearns-Sayre syndrome.

Learn more about the chromosome associated with Kearns-Sayre syndrome

Kearns-Sayre syndrome (KSS) is a rare condition that affects the mitochondria, which are responsible for producing energy in cells. This syndrome is caused by mutations in the mitochondrial DNA, a small circular piece of DNA that is found outside of the cell’s nucleus.

Research has shown that KSS is often associated with large deletions in the mitochondrial DNA. These deletions can vary in size and location, leading to a wide range of symptoms and severity in affected individuals.

The exact causes of the mitochondrial DNA deletions are not fully understood. However, studies have shown that certain genetic mutations and deficiencies in the proteins involved in mitochondrial DNA replication and maintenance can increase the likelihood of these deletions occurring.

There are several genes located on the mitochondrial DNA that are known to be associated with KSS. These genes play a crucial role in the production of energy in mitochondria. Mutations in these genes can disrupt the process of phosphorylation, which is essential for generating energy in muscle cells.

The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for information on genes associated with KSS and other diseases. It provides comprehensive and up-to-date information on the genetics, clinical features, and inheritance patterns of various conditions.

Diagnosing KSS can be challenging, as the symptoms can vary widely among individuals. However, genetic testing can help identify mutations in the mitochondrial DNA that are associated with this syndrome. This testing can be done through specialized genetic testing centers or laboratories.

For individuals diagnosed with KSS, it is important to seek additional resources and support. There are advocacy groups and patient support organizations that provide information, resources, and a community for individuals and families affected by this rare condition.

Further research is needed to better understand the consequences of mitochondrial DNA deletions in KSS and develop targeted treatments. Scientific studies and clinical trials listed on databases like PubMed and ClinicalTrials.gov can provide more information on ongoing research and potential therapies.

In conclusion, the chromosome associated with Kearns-Sayre syndrome is the mitochondrial DNA. Mutations and deletions in this DNA can lead to disruptions in energy production and result in the symptoms and severity of this rare condition. Genetic testing and resources from databases like OMIM, PubMed, and ClinicalTrials.gov can provide valuable information and support for individuals and families affected by KSS.

See also  Kleefstra syndrome

Inheritance

Kearns-Sayre syndrome (KSS) is a rare mitochondrial disorder that is usually caused by deletions in the mitochondrial DNA (mtDNA). It is inherited in a sporadic manner, meaning that it is not typically passed down from parents to their children.

Most individuals with KSS have deletions in their mtDNA, which are responsible for the symptoms and characteristics of the syndrome. These deletions can affect different areas of the mtDNA and can vary in size.

The frequency of the mtDNA deletions in KSS is not well established, but they are considered to be relatively rare. The exact causes of these deletions are not fully understood, but they are thought to occur during the replication or maintenance of mtDNA.

Genetic testing can be used to confirm the diagnosis of KSS and to identify the specific mtDNA deletions present in an individual. Testing for mtDNA deletions can be done using a variety of methods, including polymerase chain reaction (PCR), Southern blot analysis, and direct sequencing.

Additional information about the genetics of KSS can be found in scientific articles and databases such as OMIM (Online Mendelian Inheritance in Man), GeneReviews, and PubMed. These resources provide information on the genes associated with KSS, the consequences of mtDNA deletions, and the research and clinical trials that are being conducted to learn more about the condition.

In terms of inheritance, KSS is generally not passed down from parents to their children. However, there have been a few reports of families with multiple affected members, suggesting that there may be some genetic predisposition or familial clustering in certain cases.

Because KSS is a rare condition, support and advocacy groups can provide valuable resources and information for individuals and families affected by the syndrome. These organizations can help connect individuals with others who have been diagnosed with KSS and provide support, information, and access to clinical trials and research studies.

Other Names for This Condition

Kearns-Sayre syndrome is also known by the following names:

  • Deletion 8482 syndrome
  • Kearns-Sayre – deletions, mitochondrial
  • Kearns-Sayre syndrome, also known as KSS
  • KSS
  • Kearns-Sayre disease
  • KSS-D

These alternative names for Kearns-Sayre syndrome are used interchangeably and refer to the same condition. They can be found in various scientific articles, research studies, and medical resources.

Additional Information Resources

There are several resources available that provide additional information and support for individuals with Kearns-Sayre syndrome and their families.

  • Advocacy Organizations: Advocacy organizations can provide support and information about the condition. They may also offer resources for individuals to connect with others who are living with Kearns-Sayre syndrome. Some advocacy organizations include the Mitochondrial Disease Action Committee and the United Mitochondrial Disease Foundation.
  • Clinical Trials: Clinical trials are research studies that are conducted to evaluate new treatments for a specific condition. Information about ongoing clinical trials for Kearns-Sayre syndrome can be found on websites such as ClinicalTrials.gov.
  • Genetic Testing: Genetic testing can be used to confirm a diagnosis of Kearns-Sayre syndrome and identify any specific genetic mutations or deletions that may be causing the condition. This testing can also help determine the inheritance pattern of the syndrome. Individuals with Kearns-Sayre syndrome may consider discussing genetic testing with their healthcare provider.
  • Scientific Articles and Studies: There are numerous scientific articles and studies available that provide more in-depth information about Kearns-Sayre syndrome. These articles can be found in medical journals and databases such as PubMed and OMIM (Online Mendelian Inheritance in Man).
  • Symptom Management and Support: Managing the symptoms of Kearns-Sayre syndrome can be challenging. Support groups and online communities can provide a space for individuals with the condition and their families to share experiences, find support, and learn about strategies to manage the symptoms and improve quality of life.
  • Educational Resources: Educational resources such as brochures, fact sheets, and websites can provide easily understandable information about Kearns-Sayre syndrome. These resources can be useful for individuals newly diagnosed with the condition or for those seeking more information.

It is important to note that Kearns-Sayre syndrome is a rare condition, and as such, resources may be limited. However, by utilizing the available resources and staying informed about the latest research and developments, individuals with Kearns-Sayre syndrome and their families can learn more about the condition, find support, and explore potential treatment options.

Genetic Testing Information

In the context of rare diseases like Kearns-Sayre syndrome, genetic testing plays a crucial role in understanding the causes of these conditions at a cellular level and in determining their inheritance patterns. Genetic testing can help diagnose Kearns-Sayre syndrome and provide valuable information about its genetic cause.

Kearns-Sayre syndrome is primarily caused by mutations in the mitochondrial DNA (mtDNA). The mtDNA mutations result in defects in mitochondrial phosphorylation, which affects the energy production of cells. These mutations can occur either spontaneously or can be inherited from the individual’s mother, as mtDNA is passed down maternally.

Genetic testing for Kearns-Sayre syndrome usually involves analyzing the mtDNA for specific mutations or deletions. This testing can be done with known genes associated with the syndrome, such as the MT-TL1 gene. The testing may also involve studying other genes that play a role in mitochondrial function.

Scientific articles and studies provide more information about genetic testing for Kearns-Sayre syndrome. PubMed and OMIM are valuable resources for learning about the frequency of specific mutations and their clinical consequences. ClinicalTrials.gov is another useful resource for finding information about ongoing research and clinical trials related to Kearns-Sayre syndrome.

In addition to scientific resources, there are also patient advocacy groups and support organizations that provide information and resources about genetic testing for Kearns-Sayre syndrome. These organizations often have comprehensive catalogs of genetic testing and research, as well as additional information about the condition.

Overall, genetic testing is essential for individuals with Kearns-Sayre syndrome to understand their condition, its genetic cause, and potential treatment options. It helps in the diagnosis of the syndrome and provides valuable information for research and further understanding of this rare disease.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides information on Kearns-Sayre syndrome, a rare genetic condition caused by deletions or mutations in the mitochondrial DNA. Mitochondrial DNA is responsible for providing energy to the cells in our body.

Kearns-Sayre syndrome is named after the doctors who first described it. It is characterized by a combination of symptoms that can vary in severity and onset. Common symptoms include muscle weakness, difficulty coordinating movements, and heart problems.

Diagnosing Kearns-Sayre syndrome usually involves genetic testing to identify the specific deletions or mutations in the mitochondrial DNA. Testing may include analysis of muscle samples or blood samples. Some individuals may also undergo additional testing to rule out other conditions.

There is currently no cure for Kearns-Sayre syndrome, but treatment focuses on managing symptoms and providing support to affected individuals. This may include physical therapy, medications to manage heart problems, or other interventions depending on the specific needs of the patient.

Research on Kearns-Sayre syndrome and other mitochondrial diseases is ongoing, with studies often published in scientific journals and referenced in databases such as PubMed, OMIM, and clinicaltrialsgov. These resources provide additional information on the genetic causes, inheritance patterns, and consequences of Kearns-Sayre syndrome.

Advocacy organizations and support groups also play a vital role in providing resources and support to individuals and families affected by Kearns-Sayre syndrome. These organizations often provide information on genetic testing, clinical trials, and available treatment options. They also facilitate connections between individuals with the condition for emotional support and sharing of experiences.

See also  MBD5 gene

Overall, the Genetic and Rare Diseases Information Center serves as a valuable resource for individuals seeking information on Kearns-Sayre syndrome and other rare genetic diseases. It provides up-to-date information on the causes, symptoms, diagnosis, and management of these conditions, while also offering support and advocacy for affected individuals and their families.

Patient Support and Advocacy Resources

Support for individuals diagnosed with Kearns-Sayre syndrome is usually provided through patient advocacy organizations and support groups. These resources can offer information, guidance, and emotional support to patients and their families.

Several genetic mutations have been identified as the cause of Kearns-Sayre syndrome. Ongoing research studies focus on understanding the frequency, consequences, and inheritance of these mutations.

For more information on the genetic studies of Kearns-Sayre syndrome, references to articles and other scientific literature can be found in the OMIM catalog. This catalog provides comprehensive information about genes, genetic conditions, and cellular functions.

ClinicalTrials.gov is a valuable resource for patients and their families to learn about ongoing research studies related to Kearns-Sayre syndrome. This website provides information on clinical trials, their purposes, and how individuals can participate in them.

In addition to genetic testing, individuals with Kearns-Sayre syndrome may benefit from additional testing to assess muscle function, mitochondrial phosphorylation, and other related factors. These tests can provide valuable information for diagnosis and treatment.

Advocacy resources can also be found through patient support organizations, which offer additional information and support. These resources can help individuals with Kearns-Sayre syndrome and their families understand the condition better, navigate the healthcare system, and connect with other individuals who share their experiences.

Support groups and advocacy organizations can provide emotional support, educational materials, and resources for day-to-day management of the condition. They can also offer information about ongoing research and clinical trials.

Some well-known organizations that focus on mitochondrial diseases and rare genetic conditions include the United Mitochondrial Disease Foundation and the National Organization for Rare Disorders. These organizations offer comprehensive support, information, and resources for individuals and families affected by Kearns-Sayre syndrome.

Research Studies from ClinicalTrialsgov

Kearns-Sayre syndrome is a rare mitochondrial disease characterized by a variety of symptoms, including muscle weakness, eye abnormalities, and cardiac issues. The syndrome is usually diagnosed in childhood or adolescence and can have significant consequences on the patient’s quality of life.

Research studies conducted by the ClinicalTrialsgov center have provided valuable information about the genetic basis of Kearns-Sayre syndrome. By studying the genes involved in mitochondrial function and their inheritance patterns, scientists have identified that deletions in the mitochondrial DNA are the primary cause of the syndrome. These deletions disrupt the normal functioning of the mitochondria, leading to the symptoms associated with Kearns-Sayre syndrome.

One of the research studies listed on ClinicalTrialsgov focuses on investigating the frequency of mitochondrial DNA deletions in individuals diagnosed with Kearns-Sayre syndrome. This study aims to provide more information about the prevalence of these deletions and their consequences on cellular processes. The results of this study will contribute to a better understanding of the molecular mechanisms underlying Kearns-Sayre syndrome.

In addition to genetic testing, ClinicalTrialsgov provides resources for individuals with Kearns-Sayre syndrome and their families. The website offers information about the condition, including its symptoms and available treatment options. It also has articles and references from PubMed and OMIM, which provide more scientific information about Kearns-Sayre syndrome and related diseases.

The advocacy and support center on ClinicalTrialsgov offers more information and resources for individuals diagnosed with Kearns-Sayre syndrome and their families. The center provides support groups, educational materials, and access to clinical trials for potential treatments. This support can be invaluable for those affected by this rare condition.

By conducting research studies and providing resources, ClinicalTrialsgov plays a crucial role in advancing our knowledge of Kearns-Sayre syndrome. The information and genetic testing services offered by ClinicalTrialsgov can help individuals and their families understand the causes and consequences of this rare condition, and potentially find new treatment options.

Catalog of Genes and Diseases from OMIM

In the context of the Kearns-Sayre syndrome, OMIM provides a comprehensive catalog of genes and diseases. This catalog includes information on the syndrome, its causes, and associated genes.

Syndrome Kearns-Sayre syndrome (KSS)
Genes The catalog includes information on the genes associated with KSS. The most well-known gene is the mitochondrial DNA (mtDNA) deletions. These deletions affect the mitochondrial DNA and result in impaired energy production within the cells.
Names Kearns-Sayre syndrome has various alternative names, including ophthalmoplegia, pigmentary degeneration of the retina, and heart block syndrome. These alternative names are also included in the catalog.
Resources and Support The catalog provides additional resources and support for individuals diagnosed with Kearns-Sayre syndrome. It includes information on patient advocacy groups, genetic testing centers, and clinical trials available through sites like clinicaltrialsgov.
Inheritance Kearns-Sayre syndrome is typically inherited in a sporadic manner, meaning that it is not passed down through generations in a predictable pattern. However, there have been rare cases of familial inheritance documented in scientific studies.
Clinical Manifestations Kearns-Sayre syndrome is characterized by muscle weakness, eye problems, heart abnormalities, and other symptoms. The catalog includes information on the clinical manifestations and consequences of this condition.
Frequency Kearns-Sayre syndrome is a rare disorder. The catalog provides information on the frequency and prevalence of the syndrome within the population.
Genetic Testing The catalog lists the recommended genetic testing options for diagnosing Kearns-Sayre syndrome. It includes information on the specific tests and laboratories that offer these services.
Research The catalog includes references to scientific articles and studies related to Kearns-Sayre syndrome. It provides access to additional information on ongoing research and advancements in the field.

In conclusion, the catalog of genes and diseases from OMIM is a valuable resource for learning more about Kearns-Sayre syndrome. It provides information on the associated genes, clinical manifestations, genetic testing options, and support resources for individuals with this rare condition.

Scientific Articles on PubMed

PubMed is a center for scientific research studies. Within PubMed, you can find various articles related to Kearns-Sayre syndrome, a rare genetic disorder.

Kearns-Sayre syndrome is known to be caused by mutations or deletions in certain genes within the mitochondrial DNA. It is also associated with other mitochondrial diseases.

There are several scientific articles on PubMed that provide information about the condition, its causes, consequences, and available testing resources. These articles can support individuals diagnosed with Kearns-Sayre syndrome and their families by providing scientific insights and recommendations.

Additionally, PubMed offers a catalog of clinical trials related to Kearns-Sayre syndrome and other diseases. Clinical trials provide valuable information about potential treatment options and advancements in research.

To learn more about Kearns-Sayre syndrome, you can visit the PubMed website and search for scientific articles using keywords such as “Kearns-Sayre syndrome,” “mitochondrial disorders,” or specific gene names associated with the condition.

PubMed is a reliable resource for finding up-to-date and peer-reviewed scientific articles, making it an essential platform for those interested in the genetic and cellular aspects of Kearns-Sayre syndrome.

For additional information about the frequency, inheritance patterns, and consequences of mutations in the genes associated with Kearns-Sayre syndrome, you can also explore resources like OMIM (Online Mendelian Inheritance in Man) and clinicaltrialsgov.

Advocacy groups and support centers for individuals with Kearns-Sayre syndrome can provide further information about testing resources and support networks. Muscle biopsy testing and genetic testing are commonly used to diagnose the condition.

In conclusion, PubMed is a valuable platform for accessing scientific articles on Kearns-Sayre syndrome and other related diseases. It offers a comprehensive collection of research studies, clinical trials, and references that can contribute to the understanding and management of this rare genetic disorder.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.