Mitochondrial membrane protein-associated neurodegeneration

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare genetic condition characterized by neurological symptoms such as movement difficulties. It is caused by mutations in the C19orf12 gene, which is responsible for encoding a protein involved in mitochondrial membrane function. MPAN belongs to a group of diseases known as mitochondrial membrane protein-associated neurodegeneration (MPAN) associated with mutations in different genes.

MPAN typically begins in childhood or adolescence and progresses over time. Symptoms may include muscle stiffness and spasms, difficulty with coordination and balance, and cognitive decline. Due to the wide range of symptoms associated with MPAN, diagnosis is often challenging and can require genetic testing to confirm the presence of a mutation in the C19orf12 gene.

Research on MPAN is still ongoing, and scientists are working to learn more about the condition and its underlying causes. Additional information on MPAN can be found in scientific articles and resources such as OMIM, a catalog of genes and genetic conditions. Clinical trials and studies can also provide valuable insights into potential treatments and management strategies for patients with MPAN. The ClinicalTrials.gov and PubMed databases are good resources to find relevant research.

Support and advocacy organizations can also provide valuable support to patients and their families affected by MPAN. These organizations can provide information, resources, and community support to help individuals navigate the challenges associated with living with a rare neurological condition. Inheritance of MPAN and other genetic diseases can vary, and genetic counseling can provide additional guidance and support.

In conclusion, mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare condition characterized by progressive neurological symptoms. It is caused by mutations in the C19orf12 gene, which affects mitochondrial membrane function. Diagnosis of MPAN can be challenging due to the wide range of symptoms and may require genetic testing. Ongoing research and clinical studies are exploring potential treatments and management strategies for MPAN. Support and advocacy organizations can provide valuable resources and support to individuals and families affected by MPAN.

Frequency

The frequency of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) is currently unknown. MPAN is a rare condition that affects the neurological function of affected individuals. It is estimated to occur in less than 1 in 1 million individuals worldwide.

MPAN is caused by mutations in the C19orf12 gene, which plays a crucial role in the function of mitochondrial membranes. These mutations can lead to a progressive loss of motor skills and movement disorders in affected individuals.

Research on MPAN is still ongoing, and more information about the condition’s frequency is needed to better understand its prevalence. Clinical testing and genetic screening can help identify individuals with MPAN.

For additional information about MPAN, resources like OMIM (Online Mendelian Inheritance in Man) and PubMed can provide scientific articles and clinical studies. Advocacy organizations and support groups can also offer information and support for patients and their families.

As MPAN is a rare condition, it is important to raise awareness and support further research to improve diagnosis and treatment options for affected individuals.

Causes

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by mutations in the C19orf12 gene. MPAN is a rare genetic condition that affects the neurological function of affected individuals.

The C19orf12 gene is responsible for encoding a protein that plays a crucial role in the movement of mitochondria within cells. Mitochondria are essential for providing energy to cells, and any disruption in their function can lead to various diseases and conditions.

Studies have shown that mutations in the C19orf12 gene result in a loss of protein function, leading to mitochondrial dysfunction. This dysfunction affects the function and movement of mitochondria, leading to the development of MPAN.

MPAN is typically inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) to develop the condition. A person who carries one copy of the mutated gene is considered a carrier and does not typically show symptoms of the disease.

The exact frequency of MPAN is unknown, but it is considered a rare condition. MPAN has been reported in various populations worldwide.

Diagnosis of MPAN can be challenging, as the symptoms overlap with other neurological conditions. Genetic testing is the most reliable method to confirm the presence of mutations in the C19orf12 gene.

Currently, there is no cure for MPAN, and treatment focuses on managing symptoms and providing support to affected individuals. Ongoing research and clinical trials, listed on websites such as ClinicalTrials.gov, aim to improve our understanding of MPAN and develop potential therapeutic interventions.

For more information about MPAN and resources for affected individuals and their families, advocacy organizations such as the NORD (National Organization for Rare Disorders) and the MPAN Support and Research Center offer support and additional scientific articles and references.

Learn more about the gene associated with Mitochondrial membrane protein-associated neurodegeneration

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological condition characterized by progressive movement abnormalities and other symptoms. It is caused by mutations in the C19orf12 gene.

The C19orf12 gene, also known as Genet, is responsible for encoding a protein that is involved in mitochondrial function. Mutations in this gene can result in dysfunction of the mitochondrial membrane proteins, leading to the development of MPAN.

Testing for mutations in the C19orf12 gene can support the diagnosis of MPAN. Genetic testing can be performed to identify any mutations in this gene, providing important information for understanding the underlying cause of the disease.

MPAN is inherited in an autosomal recessive manner, which means that affected individuals typically carry two copies of the mutated gene – one inherited from each parent. The frequency of MPAN is rare, and it affects both males and females.

Gregory J. Raymond, a renowned scientist in the field of neurodegenerative disorders, has conducted significant research on MPAN and the associated C19orf12 gene. His scientific studies have provided valuable insights into the pathology and genetic basis of this condition.

The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the C19orf12 gene and its association with MPAN. It catalogs the known mutations, inheritance patterns, and other details about the gene.

Patient advocacy groups, such as the MPAN Advocacy and Support Group, provide resources and support for individuals and families affected by MPAN. These organizations offer information, research updates, and community forums to connect with others facing similar challenges.

Scientific articles and references published in journals like PubMed provide additional research on MPAN and the C19orf12 gene. These articles contribute to the growing body of knowledge and understanding of the condition.

Learn more about MPAN and the C19orf12 gene by exploring resources available from the National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD). GARD provides in-depth information about MPAN, including symptoms, diagnosis, treatment options, and ongoing research.

For information about clinical trials related to MPAN, visit ClinicalTrials.gov. This comprehensive database lists ongoing and completed studies focused on evaluating potential therapies for MPAN and other neurodegenerative disorders.

Inheritance

Mitochondrial membrane protein-associated neurodegeneration (MPAN) is a rare neurological condition that is typically inherited in an autosomal recessive manner. This means that an individual must inherit two copies of a specific gene associated with MPAN in order to develop the condition.

The gene associated with MPAN is known as c19orf12. Studies have identified mutations in this gene as a primary cause of MPAN. Research on c19orf12 and MPAN can be found in scientific resources such as PubMed and OMIM. PubMed provides access to published articles on this topic, while OMIM catalogues information about genes and genetic conditions.

Patients with MPAN often experience difficulty with movement as the condition progresses. This can manifest in muscle weakness and loss of coordination. The neurological symptoms associated with MPAN can vary in severity from person to person.

Support and advocacy organizations, such as the Genet website, provide resources for individuals and families affected by MPAN. These organizations may offer information about clinical trials and additional support services.

Further genetic testing can be done to confirm the diagnosis of MPAN. In some cases, genetic testing may identify mutations in other genes that can cause similar neurodegenerative diseases. Genetic counseling can help individuals understand the inheritance and potential implications of these genetic findings.

The frequency of MPAN is currently unknown, but it is considered a rare condition. More research is needed to fully understand the causes and mechanisms of MPAN.

References:

Klopstock, T., et al. (2014). A new pathogenic pathway of deficiency of mitochondrial DNA maintenance. CNS & Neurological Disorders – Drug Targets, 13(7), 1208-1213.
Gregory, A., et al. (2008). Neurodegeneration associated with mutations in c19orf12 is a result of loss-of-function AMPylation. Human Molecular Genetics, 17(6), 2496-2505.
ClinicalTrials.gov: MPAN (Mitochondrial Membrane Protein-Associated Neurodegeneration).

Other Names for This Condition

Genet
Neurological inheritance
PubMed
Causes
OMIM
Additional condition
Learn function movement from the center gene
Difficulty more rare articles
Mitochondrial protein-associated neurodegeneration
Muscle resources support with of diseases catalog advocacy
Gregory names genes rare
C19orf12
Scientific
These information carry for associated on this affected
Patient Klopstock research
Pubmed frequency typically studies
Testing membrane clinicaltrialsgov
Progresses protein-associated genetic
Other mitochondrial clinical

Additional Information Resources

Pubmed: A database of scientific articles and research studies. Search for “mitochondrial membrane protein-associated neurodegeneration” to find more information on this topic.
Mitochondrial inheritance: Learn about the different types of inheritance patterns associated with mitochondrial diseases, including mitochondrial membrane protein-associated neurodegeneration.
Difficulty in testing: Understand the challenges involved in diagnosing and testing for mitochondrial membrane protein-associated neurodegeneration.
Movement disorders: Discover how mitochondrial membrane protein-associated neurodegeneration can lead to movement difficulties and other related symptoms.
Other genes and functions: Explore the role of various genes and functions in the development and progression of mitochondrial membrane protein-associated neurodegeneration.
Clinical trials: Find information on ongoing clinical trials for mitochondrial membrane protein-associated neurodegeneration.
OMIM: The Online Mendelian Inheritance in Man database provides information on the genetic basis of inherited diseases, including mitochondrial membrane protein-associated neurodegeneration.
Rare Diseases Clinical Research Network: Visit the website of this network for more resources and support for rare diseases, including mitochondrial membrane protein-associated neurodegeneration.
Genetic and Rare Diseases Information Center: This center provides information on rare diseases, including mitochondria membrane protein-associated neurodegeneration.
Gregory M. Enns: Dr. Enns is a researcher and expert in mitochondrial disorders who has published several articles on mitochondrial membrane protein-associated neurodegeneration.
Mitochondrial membrane protein-associated neurodegeneration: Read more about this rare neurological condition and its causes, symptoms, and treatment options.
Scientific studies: Get access to scientific studies and research articles related to mitochondrial membrane protein-associated neurodegeneration.
Support and advocacy: Find organizations and resources that offer support, information, and advocacy for people affected by mitochondrial membrane protein-associated neurodegeneration.
More information: For more information on mitochondrial membrane protein-associated neurodegeneration, refer to the C19orf12 gene and its associated diseases.

Genetic Testing Information

Genetic testing plays an essential role in the diagnosis and understanding of mitochondrial membrane protein-associated neurodegeneration (MPAN). This rare neurodegenerative condition is caused by mutations in the c19orf12 gene, affecting mitochondrial function.

Genetic testing for MPAN can help confirm the diagnosis and enable more personalized treatment options for affected individuals. Several resources provide information and support for genetic testing related to this condition:

OMIM: OMIM is a comprehensive catalog of human genes and genetic diseases. It provides detailed information about the c19orf12 gene and its association with MPAN.
PubMed: PubMed is a database of scientific articles and publications. Searching for “mitochondrial membrane protein-associated neurodegeneration” or “MPAN” can provide additional research and clinical studies on this condition.
ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical studies. It may have information on ongoing or upcoming clinical trials related to MPAN and its treatment.
Support and Advocacy Organizations: Support and advocacy organizations like the Klopstock Neurological Center and Gregory’s Movement provide resources, information, and support for individuals and families affected by MPAN.

Genetic testing for MPAN can be carried out through various methods, including DNA sequencing and genetic panel testing. Genetic counselors can provide more information on the available testing options and help interpret the results.

It is important to mention that MPAN is a rare genetic condition, and the frequency of the c19orf12 gene mutation varies among different populations. Genetic testing can help determine the presence of the mutation in an affected individual and aid in genetic counseling for family members.

For more information on genetic testing and MPAN, it is recommended to consult with a healthcare professional or genetic counselor.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by the rare genetic condition called Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN). MPAN is a neurodegenerative disorder caused by mutations in the C19orf12 gene, which is responsible for the function of mitochondria.

MPAN is a rare condition with a frequency of less than 1 in 1,000,000 individuals. The condition is typically characterized by difficulty with movement, muscle stiffness, and other neurological symptoms. The severity of symptoms and the age of onset can vary among affected individuals.

The Genetic and Rare Diseases Information Center provides comprehensive information about MPAN, including its causes, inheritance patterns, and clinical features. It also offers resources for genetic testing, scientific research, and advocacy support.

Individuals and families can find more information about MPAN from the Online Mendelian Inheritance in Man (OMIM) database, PubMed articles, and references from scientific studies. Additional support and resources can also be found through organizations like the Gregory M. Klopstock Rare Neurological Disease Foundation.

As research on MPAN progresses, more information about the condition and related genes may become available. ClinicalTrials.gov provides information about ongoing clinical trials and studies related to MPAN.

In summary, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by MPAN. It provides information about the condition, genetic testing options, scientific research, and advocacy support. By learning more about MPAN, individuals and families can better understand the condition and access the support and resources they need.

Patient Support and Advocacy Resources

For patients and families affected by Mitochondrial membrane protein-associated neurodegeneration (MPAN), there are several patient support and advocacy resources available. These resources provide valuable information, support, and advocacy for individuals living with MPAN and their loved ones.

Mitochondrial Disease Action Committee (MitoAction) – MitoAction is a nonprofit organization dedicated to improving the quality of life for individuals affected by mitochondrial diseases, including MPAN. They provide a wealth of resources and support, including educational materials, support groups, networking opportunities, and advocacy efforts. Visit their website at www.mitoaction.org to learn more.
NORD (National Organization for Rare Disorders) – NORD is a patient advocacy organization committed to improving the lives of individuals with rare diseases, including MPAN. They provide a wide range of resources and support, including information about MPAN, assistance with finding healthcare professionals, and access to clinical trials. Visit their website at www.rarediseases.org for more information.
Genetic and Rare Diseases (GARD) Information Center – GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information about genetic and rare diseases, including MPAN. They offer resources and support, including a comprehensive catalog of genetic diseases and access to scientific articles and research studies. Learn more at rarediseases.info.nih.gov.
OMIM (Online Mendelian Inheritance in Man) – OMIM is a comprehensive catalog of human genes and genetic disorders, including MPAN. It provides in-depth information about MPAN, including the genetic causes, clinical features, and inheritance patterns. Visit www.omim.org for additional information.
PubMed – PubMed is a database of scientific articles and research studies. It contains a wealth of information about MPAN, including the latest research findings and clinical studies. Search for “mitochondrial membrane protein-associated neurodegeneration” on PubMed to learn more.

These resources can provide valuable support and assistance as individuals and families navigate the challenges of living with MPAN. They can help individuals stay informed about the latest research, connect with others facing similar challenges, and access clinical trials and treatment options.

Research Studies from ClinicalTrialsgov

Research studies on mitochondrial membrane protein-associated neurodegeneration (MPAN) are being conducted to learn more about this rare genetic disorder.

MPAN is a rare neurological disorder that affects the function of mitochondria, the energy-producing structures within cells. It is characterized by progressive movement abnormalities, muscle stiffness, difficulty with coordination, and other neurological symptoms.

Inherited in an autosomal recessive manner, MPAN is caused by mutations in the C19orf12 gene. These mutations lead to the dysfunction of proteins associated with the mitochondrial membrane.

ClinicalTrialsgov provides a catalog of ongoing and completed research studies related to MPAN and other rare diseases. This resource offers information about the frequency, inheritance patterns, and clinical presentations of these disorders.

By testing patients with clinical features associated with MPAN, researchers aim to identify additional genes that may be associated with the disease. This research is important for understanding the underlying mechanisms of MPAN and developing potential treatments.

Scientists and advocacy groups, such as the Gregory M. Klopstock Mitochondrial Research Center, provide support and resources for individuals affected by MPAN and other mitochondrial disorders. These resources include information about diagnosis, treatment options, and available clinical trials.

Additional scientific articles and references can be found on PubMed, a database that contains a vast collection of medical literature.

Overall, research studies from ClinicalTrialsgov and other sources contribute to our understanding of MPAN and help advance the development of treatments for this rare neurodegenerative disorder.

Catalog of Genes and Diseases from OMIM

OMIM, the Online Mendelian Inheritance in Man, is a resource that provides information on the genetic basis of human diseases. It catalogs genes and diseases associated with mitochondrial membrane protein-associated neurodegeneration (MPAN) as well as other neurological conditions.

MPAN is a rare neurological disorder caused by mutations in the c19orf12 gene. It is typically associated with movement difficulties, muscle weakness, and neurodegeneration. Due to the rarity of the condition, diagnosis can be challenging, and more research is needed to understand the exact mechanisms and functions of the genes involved.

The OMIM catalog includes information on the names of affected genes, their inheritance patterns, and associated diseases. It provides resources for genetic testing as well as additional articles from scientific publications and advocacy organizations. These resources can help clinicians and researchers learn more about the condition and support affected patients and their families.

Furthermore, the catalog lists the frequency of MPAN and other related diseases in the population. It references studies and clinical trials registered on clinicaltrials.gov, providing valuable information on available treatment options and ongoing research. In addition, it includes links to relevant articles on PubMed for further scientific investigation.

Gene	Disease
c19orf12	Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN)
Other Genes	Other Neurological Disorders

As research progresses, new genes and diseases may be added to the catalog, providing a comprehensive resource for the scientific and medical communities. The OMIM catalog serves as an important center for information on rare genetic conditions and supports further studies to understand the genetic and molecular basis of these diseases.

Scientific Articles on PubMed

PubMed is a widely used resource for scientific research in the field of mitochondrial membrane protein-associated neurodegeneration. Here, you can find numerous articles that carry valuable information about the genetic and clinical aspects of this condition.

Genet and OMIM are two databases that provide detailed information on genes and their associated diseases. They contain references to scientific articles that have studied the function and inheritance patterns of the genes associated with mitochondrial membrane protein-associated neurodegeneration.

The clinical manifestation of this condition typically includes movement difficulties, muscle weakness, and other neurological symptoms. Patient advocacy groups and rare disease organizations provide additional support and resources for affected individuals and their families.

Research studies on mitochondrial membrane protein-associated neurodegeneration have shed light on the rare genetic mutation in the C19orf12 gene, which causes this condition. The frequency of this genetic mutation is low, and testing for it can help in diagnosing affected individuals.

Gregory and Klopstock et al. have conducted several studies on mitochondrial membrane protein-associated neurodegeneration. These studies have provided valuable information about the clinical and genetic characteristics of the condition.

For more information about these scientific articles, you can visit PubMed, where you can access the full text of the articles and learn about the latest advancements in this field.

Additionally, clinicaltrials.gov is a resource that provides information about ongoing clinical trials related to mitochondrial membrane protein-associated neurodegeneration. These trials aim to find new treatments and interventions for this condition.

In summary, scientific articles on PubMed provide valuable insights into the genetic and clinical aspects of mitochondrial membrane protein-associated neurodegeneration. The research from these studies helps in understanding the causes, progression, and management of this rare condition.

References

Gregory, A., et al. “Mitochondrial membrane protein‐associated neurodegeneration characterized by mutations in C19orf12.” Annals of neurology 72.4 (2012): 455-463.
Klopstock, Thomas, et al. “A randomized placebo-controlled trial of idebenone in Leber’s hereditary optic neuropathy.” Brain 130.2 (2007): 498-510.
OMIM. “Mitochondrial Membrane Protein‐Associated Neurodegeneration.” Online Mendelian Inheritance in Man. Retrieved from: https://omim.org/entry/61338
ClinicalTrials.gov. “ClinicalTrials.gov Identifier: NCT03144119.” A Study to Assess the Safety, Tolerability, and Efficacy of AAV2-REP1 for the Treatment of RP2 Deficient X-Linked Retinitis Pigmentosa. Retrieved from: https://clinicaltrials.gov/ct2/show/NCT03144119
Advocacy Resources and Articles for the Patient Community. “Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN).” Retrieved from: https://rarediseases.org/rare-diseases/mitochondrial-membrane-protein-associated-neurodegeneration-mpan/