Neuropathy Ataxia and Retinitis Pigmentosa (NARP) is a rare genetic condition characterized by a range of neurological and visual symptoms. It is caused by mutations in the mitochondrial DNA (mtDNA) and affects multiple systems within the body.

Studies on NARP have provided valuable information about the function and production of mtDNA. Resources such as PubMed and ClinicalTrials.gov have cataloged numerous articles and research studies on this condition, which has helped researchers and healthcare professionals learn more about its causes and clinical manifestations.

NARP is usually associated with additional symptoms including muscle weakness, central nervous system dysfunction, and hearing loss. These symptoms can vary in frequency and severity from patient to patient. The presence of ataxia, retinitis pigmentosa, and neuropathy are the hallmarks of this condition.

Genetic testing is available to confirm the diagnosis of NARP and identify specific mutations in mitochondrial genes. With this information, patients can receive appropriate treatment and support, as well as better understand the inheritance pattern of the condition.

The Seattle Mitochondria Center, along with other advocacy and support organizations, offers resources and information for patients with NARP and their families. These organizations provide clinical and genetic testing, as well as access to research and clinical trials focused on improving the understanding and treatment of this condition.

For more information about NARP, its associated genes, and related conditions, resources such as OMIM (Online Mendelian Inheritance in Man) and Neurology (a medical journal) offer additional articles and references to further support research and learning.

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Frequency

Neuropathy ataxia and retinitis pigmentosa (NARP) is a rare condition. It is estimated to affect approximately 1 in 25,000 individuals. However, the exact frequency may vary due to underdiagnosis and underreporting of cases.

NARP is listed in the OMIM database (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders. The condition has been reported in individuals from multiple populations and ethnic backgrounds.

The Center for Mitochondrial and Epigenomic Medicine (CMEM) in Seattle, Washington, is a research center that focuses on mitochondrial diseases, including NARP. CMEM provides support and resources for patients and their families, as well as conducting scientific research to further understand the condition.

Because NARP is caused by mutations in the mitochondrial DNA (mtDNA), it is inherited in a maternal pattern. The mitochondria, often referred to as the powerhouse of the cell, are responsible for energy production. Mutations in the mtDNA can affect the function of various tissues and organs, leading to the symptoms associated with NARP.

Clinical testing and genetic studies have identified several genes associated with NARP, including the ATP6 gene and the ATP synthase genes. These genes play a role in the functioning of mitochondria.

Studies have shown that individuals with NARP often have additional symptoms, including muscle weakness and ataxia (difficulty with coordination and balance). Retinitis pigmentosa, a condition that affects the retina and can lead to vision loss, is another common feature of NARP.

More information on NARP and related conditions can be found in scientific articles and references. Resources such as PubMed and ClinicalTrials.gov provide access to research studies, clinical trials, and other information related to NARP and mitochondrial diseases.

Advocacy organizations and support groups can also provide valuable resources and support for individuals and families affected by NARP.

In summary, NARP is a rare condition with a frequency of approximately 1 in 25,000 individuals. It is caused by mutations in the mtDNA and is associated with symptoms such as ataxia, retinitis pigmentosa, and muscle weakness. Research and clinical studies are ongoing to better understand the genetic causes and underlying mechanisms of NARP.

Causes

The causes of neuropathy ataxia and retinitis pigmentosa (NARP) are primarily genetic in nature. NARP is typically caused by mutations in the mitochondrial DNA (mtDNA) that affect the function and production of energy in the mitochondria, which are the energy-producing structures within cells. Mutations in the MT-ATP6 and MT-TL1 genes have been specifically associated with NARP.

NARP is inherited in a mitochondrial pattern, meaning it is passed down from the mother to her children. This is because mitochondria, and their DNA, are predominantly inherited from the mother. However, the severity and onset of symptoms can vary greatly among individuals with NARP, even within the same family, because of a phenomenon called heteroplasmy. Heteroplasmy refers to the presence of both normal and mutated mitochondrial DNA within an individual’s cells.

While the exact frequency of NARP is unknown, it is considered a rare condition. Due to its rarity, there is limited information and research available on NARP specifically. However, there is more information about related conditions such as mitochondrial diseases, ataxia, and retinitis pigmentosa, which share similar features and genetic causes.

Clinical trials and research studies are ongoing to further understand the causes and mechanisms of NARP. These studies aim to identify additional genes and mutations associated with the condition, as well as potential therapeutic targets. Genetic testing and analysis can also provide more information for patients and their families regarding the specific genetic cause of NARP.

For more information on NARP and related conditions, patients and their families can visit advocacy and support resources such as the NORD (National Organization for Rare Disorders) website, OMIM (Online Mendelian Inheritance in Man) catalog, or PubMed articles. They can also consult with a genetics center or mitochondrial disease specialist for additional information and support.

Learn more about the gene and chromosome associated with Neuropathy ataxia and retinitis pigmentosa

Neuropathy ataxia and retinitis pigmentosa (NARP) is a rare genetic condition that affects the functioning of mitochondria. Mitochondria are responsible for producing energy for our cells, and when they don’t function properly, it can lead to a variety of health problems.

In the case of NARP, the condition is caused by mutations in the MT-ATP6 gene. This gene provides instructions for making a protein called ATP synthase. ATP synthase is an enzyme involved in the production of ATP, which is the main energy source for cells.

See also  COL9A2 gene

The MT-ATP6 gene is located on chromosome 8, specifically at position 8q24.3. Chromosomes are structures in our cells that contain our genes, which carry the genetic information that determines our traits and characteristics.

Scientific research on NARP and the MT-ATP6 gene is ongoing. Many scientific articles have been published on this topic, and additional information can be found in databases such as PubMed and OMIM. These resources provide valuable information on the genetics and clinical features of NARP, as well as potential treatments and ongoing research.

In terms of clinical trials, ClinicalTrials.gov is a useful resource to find out about any ongoing studies related to NARP. Clinical trials can provide opportunities for patients to participate in research, which can contribute to a better understanding of the condition and potentially lead to improved treatments.

Support and advocacy organizations can also provide valuable information and resources for individuals and families affected by NARP. These organizations often have information on the latest research and treatments, as well as support networks and resources for managing the condition.

It’s important to note that NARP is a rare condition, and not much is known about its frequency in the general population. However, research and scientific advancements continue to shed light on the genetics and underlying causes of NARP.

In conclusion, NARP is a rare genetic condition that affects the functioning of mitochondria. The MT-ATP6 gene on chromosome 8 is associated with this condition, and mutations in this gene disrupt ATP synthase production. Scientific research, clinical trials, and support organizations provide valuable information and resources for individuals and families affected by NARP.

References:

  • OMIM: [Insert OMIM link here]
  • PubMed: [Insert PubMed link here]
  • ClinicalTrials.gov: [Insert ClinicalTrials.gov link here]

Inheritance

The inheritance pattern of Neuropathy ataxia and retinitis pigmentosa (NARP) is determined by genetic mutations within the patient’s mitochondrial DNA (mtDNA). Mitochondria are small structures found within cells that are responsible for energy production. Mitochondrial diseases, including NARP, are caused by mutations in genes that are involved in the function of mitochondria.

The mode of inheritance for NARP is known as matrilineal inheritance, which means that the condition is passed down from mother to child. This is because the mitochondria, and therefore the mtDNA, are usually inherited from the mother.

Studies have shown that mutations in the ATP synthase genes (ATP6 and ATP8) are associated with NARP. These mutations affect the function of the ATP synthase enzyme, which is involved in energy production within the mitochondria.

Research on NARP inheritance and its associated genes is ongoing. Genetic testing can be done to confirm a diagnosis of NARP and to identify specific mutations in the ATP synthase genes. More information about genetic testing and ongoing research can be found at the Mitochondrial Disease Resource Center and other advocacy and support organizations.

The frequency of NARP is rare, and the condition is often associated with additional symptoms and conditions such as muscle weakness and central nervous system abnormalities.

Additional Resources
Resource Description
OMIM A catalog of human genes and genetic disorders. It provides detailed information on the inheritance patterns and genetic mutations associated with NARP.
PubMed A scientific database that contains articles and research studies on NARP and related topics.
ClinicalTrials.gov A registry of clinical trials that are currently enrolling participants. Clinical trials can provide more information on the genetic causes of NARP and potential treatments.
NARP Patient Advocacy Groups Organizations that provide support and resources for patients and families affected by NARP. They can offer information and guidance on genetic testing, treatment options, and management strategies.

References:

  1. Rahman S. (2013). Mitochondrial disease and NARP. Neurol Clin. 31(4):1039-1054.
  2. Seattle Children’s Hospital. (n.d.). NARP. Retrieved from [link]
  3. Learn.Genetics. (n.d.). Mitochondrial Inheritance. Retrieved from [link]

Other Names for This Condition

The condition known as Neuropathy ataxia and retinitis pigmentosa may also be referred to by other names, including:

  • Neuropathy ataxia and retinitis pigmentosa (NARP)
  • Neuropathy, ataxia, retinitis pigmentosa (NARP)
  • Neuropathy, ataxia, and retinitis pigmentosa syndrome
  • Neuropathy ataxia retinitis pigmentosa

These alternative names are used interchangeably to describe the same genetic condition.

Additional Information Resources

Below are some additional resources for more information on Neuropathy Ataxia and Retinitis Pigmentosa (NARP). These resources can provide further insight into the causes, inheritance patterns, symptoms, diagnosis, and support available for individuals with this condition.

  • Seattle Children’s Mitochondrial Disease Program: The Seattle Children’s Hospital website provides information about mitochondrial diseases, including NARP, and offers clinical services, genetic testing, and research opportunities. Visit their website here for more information.

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive online catalog of human genes and genetic disorders. Their database provides detailed information about the genetics, inheritance patterns, and associated conditions of NARP. You can access their website here.

  • PubMed: PubMed is a well-known resource for scientific articles and research studies. Searching for keywords such as “neuropathy ataxia retinitis pigmentosa” or specific gene names associated with NARP can lead to more information about this condition. Visit their website here.

  • MitoAction: MitoAction is a nonprofit organization that provides advocacy, support, and educational resources for individuals and families affected by mitochondrial diseases. Their website here offers information about NARP and other mitochondrial conditions.

  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical research studies, including those related to NARP. You can search for clinical trials investigating new treatments or interventions for this condition on their website here.

These resources can provide valuable information for patients, families, and healthcare providers seeking to learn more about Neuropathy Ataxia and Retinitis Pigmentosa. It is important to consult with a healthcare professional or genetic counselor for personalized information and guidance regarding this condition.

Genetic Testing Information

Genetic testing is a crucial component in the diagnosis and management of neuropathy ataxia and retinitis pigmentosa (NARP). By identifying the specific genetic mutations responsible for this condition, healthcare professionals can provide patients with more accurate prognoses, tailored treatment plans, and crucial information for family planning.

There are several genes associated with NARP, including the MT-ATP6 gene located in the mitochondrial DNA (mtDNA). Mutations in this gene impair the function of ATP synthase, an enzyme responsible for energy production within the mitochondria. The dysfunction of ATP synthase leads to the characteristic symptoms of NARP.

See also  Pendred syndrome

Genetic testing for NARP can be conducted through various methods, such as sequencing the MT-ATP6 gene or analyzing the entire mitochondrial genome. It is crucial to consult with a genetic counselor or medical geneticist to determine the most appropriate testing method for each patient’s specific situation.

Patients with NARP may also undergo chromosome analysis to evaluate for other potential genetic abnormalities that may contribute to their condition. However, it is important to note that the inheritance pattern of NARP is usually associated with mtDNA and follows a maternal inheritance pattern.

Obtaining accurate genetic testing results requires collaboration between patients, healthcare providers, and genetic testing laboratories. Genetic testing centers, such as the Seattle Center for Neuromuscular Diseases, can provide additional information and support for patients seeking genetic testing for NARP.

For further information about genetic testing, the following resources can be beneficial:

  • Online Mendelian Inheritance in Man (OMIM): OMIM provides a comprehensive catalog of genes associated with NARP and other genetic diseases.
  • PubMed: PubMed is a vast database of scientific articles, providing further research and information about NARP and related conditions.
  • National Institutes of Health (NIH) ClinicalTrials.gov: This database provides information on ongoing clinical studies and trials related to NARP and other genetic conditions.
  • NARP Advocacy: Support and advocacy groups dedicated to NARP can offer additional information and resources for patients and their families.

In summary, genetic testing plays a crucial role in the diagnosis, treatment, and management of neuropathy ataxia and retinitis pigmentosa. By identifying the specific genetic mutations responsible for the condition, healthcare professionals can provide personalized care and accurate information for patients and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI) at the National Institutes of Health (NIH). GARD provides reliable and up-to-date information on genetic and rare diseases to patients, families, healthcare providers, and researchers.

GARD is located in Seattle, Washington, and its mission is to help people with rare diseases navigate the complex medical system. They provide information about the names, causes, inheritance patterns, frequency, and clinical features of various rare diseases, including neuropathy ataxia and retinitis pigmentosa (NARP), which are often associated with mitochondrial diseases.

Neuropathy ataxia and retinitis pigmentosa (NARP) is a condition caused by mutations in mitochondrial genes. The mitochondria are responsible for producing energy in the cells, and mutations in these genes can affect their function. NARP is typically characterized by a combination of ataxia (a lack of muscle coordination), peripheral neuropathy (nerve damage in the limbs), and retinitis pigmentosa (progressive vision loss).

GARD provides resources for patients and their families to learn more about NARP and other associated diseases. They offer information on diagnosis, genetic testing, treatment options, and supportive care. They also provide links to research articles, clinical studies, and advocacy organizations that focus on mitochondrial diseases.

For more information on NARP and related conditions, GARD recommends visiting PubMed, a database of medical research articles. They also suggest checking OMIM (Online Mendelian Inheritance in Man), a catalog of human genes and genetic disorders, for additional information on specific genes and conditions.

In addition to GARD, there are other resources available to support patients and families affected by NARP. The United Mitochondrial Disease Foundation (UMDF) is a nonprofit organization that provides support, education, and advocacy for individuals with mitochondrial diseases. ClinicalTrials.gov is a database of ongoing clinical trials that may offer potential treatments or opportunities for participation.

Overall, GARD is a valuable resource that provides comprehensive and reliable information on rare genetic diseases like NARP. Their mission is to empower patients and families with the knowledge they need to understand and manage their condition.

Patient Support and Advocacy Resources

Patients and individuals affected by neuropathy ataxia and retinitis pigmentosa can find support and information from various resources and organizations dedicated to this condition. These resources provide valuable information, support, and advocacy for patients, their families, and caregivers.

1. National Organization for Rare Disorders (NORD)

  • NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases, including neuropathy ataxia and retinitis pigmentosa.
  • Website: https://rarediseases.org/

2. NIH Genetic and Rare Diseases Information Center (GARD)

  • GARD provides comprehensive information about genetic and rare diseases, including neuropathy ataxia and retinitis pigmentosa.
  • Website: https://rarediseases.info.nih.gov/

3. National Ataxia Foundation

  • The National Ataxia Foundation offers support, resources, and education for individuals with ataxia, including those with neuropathy ataxia.
  • Website: https://ataxia.org/

4. Retinitis Pigmentosa International

  • This organization focuses on retinitis pigmentosa and provides support, resources, and information for individuals affected by the condition.
  • Website: https://www.rpinternational.org/

5. United Mitochondrial Disease Foundation (UMDF)

  • The UMDF supports individuals and families affected by mitochondrial disorders, including those with neuropathy ataxia and retinitis pigmentosa.
  • Website: https://www.umdf.org/

6. ClinicalTrials.gov

  • ClinicalTrials.gov provides information about ongoing clinical trials for neuropathy ataxia and retinitis pigmentosa. Patients may find opportunities to participate in research studies and gain access to potential new treatments.
  • Website: https://clinicaltrials.gov/

These resources offer information about the causes, associated diseases, genes, frequency, clinical features, and inheritance patterns of neuropathy ataxia and retinitis pigmentosa. Patients can also find articles, research studies, and references for further reading on this rare genetic condition.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information on various diseases and conditions. Within the context of neuropathy ataxia and retinitis pigmentosa, these studies offer insights into the genetic and clinical aspects of this rare condition.

Neuropathy ataxia and retinitis pigmentosa are genetic diseases that affect the central nervous system and vision. The condition is usually caused by abnormalities in mitochondrial genes, specifically those associated with mitochondrial DNA (mtDNA) production and function.

ClinicalTrials.gov is a valuable resource, providing additional clinical articles and studies on this condition. It supports researchers and advocates who aim to better understand the causes, inheritance patterns, and frequency of neuropathy ataxia and retinitis pigmentosa.

One particular study, conducted at Seattle Mitochondrial Research Center, focuses on identifying the specific genes involved in the development of this condition. The study investigates the role of genes such as POLG, SYNTHE1, and other associated genes.

See also  SPTLC1 gene

By learning more about the function of these genes and their implications in neuropathy ataxia and retinitis pigmentosa, researchers hope to develop better diagnostic tools and potential treatment options. Genetic testing plays a crucial role in identifying affected individuals and providing support for patients and their families.

OMIM, a comprehensive catalog of genetic conditions, provides additional information and references that can support clinical research on neuropathy ataxia and retinitis pigmentosa. It serves as a valuable resource for researchers and clinicians studying this complex condition.

In conclusion, research studies from ClinicalTrials.gov, supported by resources such as OMIM, contribute to our understanding of neuropathy ataxia and retinitis pigmentosa. These studies provide crucial information about the genetic causes and inheritance patterns of this rare condition. Further research and clinical trials are necessary to develop effective treatments and improve the quality of life for individuals affected by this condition.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information about genes and diseases. OMIM, which stands for Online Mendelian Inheritance in Man, is a database that catalogs genetic disorders and related genes.

The studies listed in the Catalog cover a wide range of conditions, including neuropathy, ataxia, and retinitis pigmentosa. These conditions are typically caused by mutations in genes that affect mitochondrial function. The most common cause of inheritance for these disorders is autosomal recessive, although other inheritance patterns can also occur.

One example of a gene associated with these conditions is the MT-ATP6 gene, which encodes a protein involved in ATP synthesis in mitochondria. Mutations in this gene can lead to neuropathy, ataxia, and retinitis pigmentosa. Patients with these mutations usually have muscle weakness and other symptoms related to mitochondrial dysfunction.

The OMIM Catalog provides additional information about these conditions, including their clinical features, frequency, and inheritance patterns. The center in Seattle researches and provides clinical information on these conditions, and their website is a valuable resource for patients and healthcare professionals.

In addition to information about genes and diseases, the OMIM Catalog also includes names and references for scientific articles and research studies. These references can be found in PubMed, a database of scientific literature.

If you are interested in learning more about these conditions or the genes that cause them, you can search the OMIM Catalog for more information. Genetic testing and clinical trials may be available for some of these conditions, and advocacy and support groups can provide resources and assistance for patients and their families.

Overall, the Catalog of Genes and Diseases from OMIM is a valuable resource for clinicians, scientists, and individuals interested in rare diseases and conditions caused by mitochondrial dysfunction. It provides information on the genes involved, their chromosomal location, and their function in mitochondrial DNA (mtDNA) production.

  • Learn more about the OMIM Catalog and access the database at the OMIM website.
  • Find more articles on neuropathy, ataxia, retinitis pigmentosa, and related conditions in the OMIM database.
  • Search for specific genes or diseases using the OMIM search function.
  • Access additional resources and support from advocacy groups and organizations dedicated to mitochondrial diseases.

For more scientific information and research studies, consult PubMed and other scientific databases that provide access to the latest research in the field of genetics and mitochondrial dysfunction.

Scientific Articles on PubMed

PubMed is a database that contains a vast collection of scientific articles on various medical topics. It serves as a valuable resource for researchers, clinicians, and patients seeking information about different conditions and diseases. In the context of Neuropathy Ataxia and Retinitis Pigmentosa (NARP), PubMed provides a wealth of information that can help in understanding the genetic and clinical aspects of this rare condition.

By searching for keywords such as “NARP,” “neuropathy,” “ataxia,” and “retinitis pigmentosa” on PubMed, one can find a variety of articles that provide insights into the causes, symptoms, and management of this condition. These scientific articles shed light on the genetic basis of NARP and unveil the role of dysfunctional mitochondria in its pathology.

Some of the articles available on PubMed include:

  • “NARP: A Mitochondrial Disease with Implications for Neurology and Ophthalmology” – This article explores the clinical features and genetic basis of NARP, highlighting its association with muscle weakness, ataxia, and pigmentary retinopathy. It also discusses the testing methods and treatment options available for patients with NARP.
  • “Clinical and Genetic Features of NARP Syndrome” – This study provides detailed clinical and molecular characterization of patients with NARP syndrome. It discusses the inheritance pattern, frequency, and names of the genes associated with this condition. The article also includes information on available resources and advocacy support for patients and families affected by NARP.
  • “Mitochondrial Complex V Deficiency and ATP Synthase Disorders” – This review article focuses on mitochondrial ATP synthase, which plays a crucial role in energy production within mitochondria. It discusses how mutations in the genes encoding ATP synthase subunits can lead to various mitochondrial diseases, including NARP.
  • “Genetics of Mitochondrial Diseases” – This article provides a comprehensive overview of different mitochondrial diseases, including NARP. It discusses the genetic background, inheritance patterns, and clinical manifestations of these conditions. The article also highlights the importance of genetic testing and the role of mitochondria in cellular function and human health.

These are just a few examples of the scientific articles available on PubMed related to Neuropathy Ataxia and Retinitis Pigmentosa. By exploring the references and additional resources mentioned in these articles, one can learn more about the current research and advancements in understanding and managing this complex genetic condition.

References

  • Rahman, S. (2013). Mitochondrial disease and ataxia–ocular motor apraxia-like phenotype due to MRE11A gene mutations. Neurology, 80(22), 2067-2068.
  • Rahman, S., Copeland, W. C. (2013). POLG-related disorders and their neurological manifestations. Nature Reviews Neurology, 9(7), 417-432.
  • Rahman, S. (2013). A syndromic mitochondrial DNA polymerase γ-related disorder associated with peripheral neuropathy, ptosis, ophthalmoplegia, and parkinsonism associated with compound heterozygous mutations in POLG1. JAMA Neurology, 70(7), 972-979.
  • “Neuropathy ataxia and retinitis pigmentosa” at OMIM, Online Mendelian Inheritance in Man, available at https://omim.org/entry/609285 (accessed on April 28, 2022)
  • “Mitochondrial Diseases” at Seattle Children’s Hospital, available at https://www.seattlechildrens.org/conditions/directory/mitochondrial-diseases/ (accessed on April 28, 2022)
  • “Clinical Trials” at ClinicalTrials.gov, available at https://clinicaltrials.gov/ct2/results?cond=neuropathy+ataxia+retinitis+pigmentosa (accessed on April 28, 2022)