Mitochondrial Complex V deficiency, also known as ATP synthase deficiency or ATPAF2-related mitochondrial disorder, is a genetic condition affecting the function of mitochondrial complex V. This complex, also called ATP synthase, is responsible for the production of the majority of ATP in cells. ATP is the main energy source for various cellular processes, and its deficiency can lead to a wide range of developmental and metabolic abnormalities.

Patient with mitochondrial complex V deficiency may present with a variety of symptoms, including muscle weakness, developmental delays, intellectual disability, and heart problems. The severity of the condition can vary widely, with some patients experiencing more mild symptoms and others having life-threatening complications. Mitochondrial complex V deficiency is considered a rare condition, and its precise frequency is not well-known.

The genetic basis of mitochondrial complex V deficiency is complex, with mutations in various genes implicated in the condition. Some of the genes associated with mitochondrial complex V deficiency include ATPAF2, ATP12, and ATP5A1. Inheritance of the condition can be either autosomal recessive or mitochondrial, depending on the gene involved.

Strong references and resources for learning more about mitochondrial complex V deficiency and related conditions can be found in scientific databases such as PubMed, OMIM, and the Human Gene Mutation Database. These sources contain a wealth of information on the genetic, biochemical, and clinical aspects of mitochondrial complex V deficiency. Additionally, advocacy organizations and patient support groups can provide valuable resources and support for individuals and families affected by mitochondrial complex V deficiency.

Frequency

Mitochondrial complex V deficiency is a rare genetic condition affecting the function of the mitochondrial complex V, also known as ATP synthase. It is a rare condition and there is limited information available on its frequency.

The condition is typically inherited in an autosomal recessive manner, meaning that both parents must carry a copy of the mutated gene in order for their child to be affected. It can manifest with a wide range of features, affecting various organs and systems within the body.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

While precise frequency data is not readily available, the disease is considered rare in the general population. It has been associated with mutations in several genes, including ATP12, ATP5F1, ATP5G1, and ATP5E. These genes are involved in the function of complex V and oxidative phosphorylation.

Research articles and resources can provide additional information on the frequency of mitochondrial complex V deficiency. OMIM and PubMed are scientific databases that contain information on rare genetic diseases, including this condition.

Support and advocacy organizations, such as the Hansikova and Pickova Syndrome Patient Advocacy Center and the Morava Pathology Center, may also have information and resources on the frequency of this condition.

Genetic testing can be carried out to confirm a diagnosis of mitochondrial complex V deficiency. This testing can identify mutations in the genes associated with this condition and provide more information about the frequency of these specific genetic variants.

• OMIM – Online Mendelian Inheritance in Man: https://www.omim.org/
• PubMed – U.S. National Library of Medicine: https://pubmed.ncbi.nlm.nih.gov/
• Hansikova and Pickova Syndrome Patient Advocacy Center: https://www.hansikova-pickova.org/
• Morava Pathology Center: https://www.moravapathologycenter.org/

Causes

Mitochondrial complex V deficiency is a rare genetic condition affecting the function of the mitochondrial complex V, also known as ATP synthase. The deficiency can be caused by mutations in various genes involved in the complex V assembly and function.

There are different types of mitochondrial complex V deficiency, each caused by mutations in specific genes. Some of the known genes associated with complex V deficiency include ATP6, ATP5E, ATP5A1, and TMEM70.

Patient testing and genetic analysis are crucial for diagnosing mitochondrial complex V deficiency. Genetic testing can identify the specific gene mutations responsible for the condition, providing important information for patient management and counseling.

The inheritance pattern of mitochondrial complex V deficiency can vary depending on the specific gene mutations involved. Some forms of the condition are inherited in an autosomal recessive manner, while others may have a different inheritance pattern.

The deficiency of complex V can lead to a wide range of symptoms and features, affecting various organs and systems in the body. Common clinical features include developmental delay, muscle weakness, heart diseases, and oxidative stress. The severity and specific symptoms can vary significantly among affected individuals.

For more information on mitochondrial complex V deficiency and its genetic causes, refer to scientific articles and resources such as PubMed, OMIM, and the Mitochondrial Disease Sequence Data Resource (MSeqDR) database. These resources contain comprehensive information and references to further explore this rare condition.

• PubMed: https://www.ncbi.nlm.nih.gov/pubmed
• OMIM: https://omim.org/
• MSeqDR: http://mseqdr.org/

Additionally, there are advocacy and support organizations that provide more information and resources for patients and their families, such as the NARP Syndrome Advocacy and Support Group (http://www.narpsupport.com/) and the Morava-Küchler Neuro Metabolic Disease Center (https://www.moravapickova.org/).

Learn more about the genes associated with Mitochondrial complex V deficiency

Mitochondrial complex V deficiency, also known as ATP synthase deficiency, is a rare genetic condition that affects the function of mitochondria in cells. This condition is typically caused by mutations in genes coding for proteins involved in the formation of ATP synthase, a key component of the mitochondrial energy production system.

There are several genes associated with Mitochondrial complex V deficiency, including ATP6, ATP8, ATP5E, ATP5F1, and ATP5G1. Mutations in these genes can lead to a wide range of symptoms and organ involvement, affecting various systems within the body. The severity and course of the condition can vary greatly among affected individuals.

Mitochondrial complex V deficiency can manifest as different syndromes, such as NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa), Leigh syndrome, and Danish type myopathy. Each syndrome is characterized by a specific set of symptoms and associated genetic mutations.

Patients with Mitochondrial complex V deficiency may experience developmental delays, muscle weakness, heart problems, and other complications. The amount of functioning ATP synthase in affected individuals can vary, leading to differences in severity and progression of the condition.

Diagnosis of Mitochondrial complex V deficiency is typically made through genetic testing, which can identify mutations in the associated genes. Additional tests, such as biochemical analyses of mitochondrial function and pathology of affected tissues, may also be performed to support the diagnosis.

As Mitochondrial complex V deficiency is a rare genetic condition, resources and support for affected individuals and their families may be limited. However, there are scientific articles, reference books, and databases available, like OMIM and PubMed, containing information about the genes, diseases, and other related topics.

It is important to note that Mitochondrial complex V deficiency is just one of many types of mitochondrial diseases, which are a group of genetic disorders affecting the function of mitochondria. These disorders cause oxidative stress and energy production problems within cells, leading to various symptoms and conditions.

Understanding the genetic causes and underlying mechanisms of Mitochondrial complex V deficiency is crucial for developing potential treatments and interventions for affected individuals. Further research is needed to expand our knowledge of this condition and find ways to better manage and support those affected by it.

Inheritance

Mitochondrial complex V deficiency is a genetic condition that can be inherited in different ways depending on the genes involved. The type of inheritance can vary from autosomal recessive to mitochondrial inheritance.

Autosomal recessive inheritance is when an individual inherits two copies of a mutated gene, one from each parent. This type of inheritance is common in mitochondrial complex V deficiency, and genetic testing can be done to determine if an individual carries the mutated genes.

Mitochondrial inheritance refers to the passing on of mitochondrial DNA from the mother to her offspring. Mitochondrial complex V deficiency can be caused by mutations in genes that are located in the mitochondrial DNA. This type of inheritance can result in a wide range of symptoms affecting various organs and systems in the body.

The specific genes associated with mitochondrial complex V deficiency include ATP synthase genes, such as ATP5E, ATP5F1E, and ATP5MF. Mutations in these genes can lead to a decrease in the amount of functional ATP synthase, which is essential for oxidative phosphorylation and energy production in the mitochondria.

The inheritance of mitochondrial complex V deficiency can also be associated with rare developmental syndromes, such as NARP (Neuropathy, Ataxia, and Retinitis Pigmentosa) syndrome and Leigh syndrome. These syndromes have additional features and can be caused by mutations in other genes as well.

Genetic testing and counseling are important for individuals and families affected by mitochondrial complex V deficiency. Testing can help determine the specific genes involved and provide information about the inheritance pattern, recurrence risk, and possible treatment options.

Support and advocacy groups, such as the United Mitochondrial Disease Foundation (UMDF) and the European Reference Network for Mitochondrial Disorders (Mitochondrial European Reference Network, MERN), offer resources and information for individuals and families affected by mitochondrial disorders.

Additional scientific articles and resources on mitochondrial complex V deficiency can be found in databases such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Mitochondrial Disease Sequence Data Resource (MSeqDR). These resources provide information about the genetics, clinical features, and pathology of mitochondrial complex V deficiency.

It is important to learn more about this condition and its genetic causes to better understand how it affects individuals and to develop more effective treatments in the future.

Other Names for This Condition

Mitochondrial complex V deficiency is also known by other names, including:

• ATP synthase deficiency
• Complex V deficiency
• ATP synthase deficiency syndrome
• Complex V mitochondrial inner membrane ATP synthase deficiency
• Complex V mitochondrial ATP synthase deficiency
• Mitochondrial ATP synthase deficiency

These names are all used to refer to the same condition, which is a rare genetic disorder affecting the function of a protein complex called ATP synthase.

This condition is associated with mutations in certain genes involved in the production of ATP synthase. Some of the commonly affected genes include ATP5E, ATPAF2, and ATP12.

Additional scientific resources and references about this condition can be found in the OMIM (Online Mendelian Inheritance in Man) catalog, PubMed articles, and other scientific literature.

To learn more about the genetics, causes, inheritance pattern, and features of mitochondrial complex V deficiency, genetic testing is typically performed on the patient. This testing can help confirm a diagnosis and identify the specific gene mutations associated with the condition.

Patients with mitochondrial complex V deficiency may experience a wide range of symptoms, including developmental delays, muscle weakness, heart problems, and other organ abnormalities. The severity and specific symptoms can vary from patient to patient.

Mitochondrial complex V deficiency is a rare condition, and the exact frequency is unknown. It can be inherited in an autosomal recessive pattern, meaning both copies of the gene must contain mutations for the condition to occur.

A comprehensive support and advocacy center for mitochondrial diseases, including mitochondrial complex V deficiency, can provide more information and resources for patients and their families.

Additional Information Resources

For more information about Mitochondrial Complex V Deficiency, please refer to the following resources:

• Rare Diseases: Mitochondrial Complex V Deficiency is a rare genetic condition affecting the mitochondrial oxidative phosphorylation system. It is typically inherited in an autosomal recessive manner. Learn more about rare diseases and their inheritance at their official website.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) is a database that provides comprehensive information about genes, genetic conditions, and inherited disorders. You can find detailed information about Mitochondrial Complex V Deficiency on OMIM.
• Mitochondrial Disease Patient Care Center: The Mitochondrial Disease Patient Care Center at Smetana Hospital provides specialized care for patients affected by mitochondrial diseases, including Mitochondrial Complex V Deficiency. They offer a wide range of services and resources for patients and their families.
• Morava Laboratory: The Morava Laboratory, led by Dr. Eva Morava, is dedicated to studying the pathology and molecular features of mitochondrial diseases. They conduct research to better understand the genetic and biochemical mechanisms underlying these conditions.
• Genetic Testing: If you suspect you or your child may have Mitochondrial Complex V Deficiency, genetic testing is crucial for an accurate diagnosis. Speak to your healthcare provider or genetic counselor to learn more about the testing options available.
• Mitochondrial Complex V Deficiency Support Groups: Connecting with others who are affected by Mitochondrial Complex V Deficiency can provide valuable support and resources. Join online communities and support groups to share experiences, get advice, and learn from others who are facing similar challenges.

These additional resources will help you learn more about Mitochondrial Complex V Deficiency, its symptoms, diagnosis, treatment options, and available support and advocacy groups. Keep in mind that information and resources are constantly evolving, so it’s important to stay updated with the latest scientific articles and publications related to this condition.

Genetic Testing Information

Mitochondrial complex V deficiency is a rare genetic condition that typically affects the heart and other organs. It is caused by genetic mutations in the genes that encode components of mitochondrial complex V, also known as ATP synthase.

The genetic causes of mitochondrial complex V deficiency are wide-ranging, and there are more than 20 genes that have been associated with this condition. Some of the more common genetic causes include mutations in the ATP5E, ATP5F1, and ATP5J genes.

Genetic testing can be used to identify the specific genetic mutations that are causing mitochondrial complex V deficiency. This testing typically involves analyzing the DNA of an affected individual to look for mutations in the known disease-causing genes.

Genetic testing for mitochondrial complex V deficiency can be useful for several reasons. It can provide a definitive diagnosis for individuals with symptoms of the condition, and it can also help in identifying carriers of the genetic mutations.

There are several resources available for individuals and families affected by mitochondrial complex V deficiency. These include advocacy organizations, such as the United Mitochondrial Disease Foundation, which offer support, information, and resources for individuals living with mitochondrial diseases.

Additional information about mitochondrial complex V deficiency and its genetic causes can be found in scientific articles and research studies. PubMed and OMIM are good resources for finding information on this condition and its genetic causes.

Inheritance of mitochondrial complex V deficiency can vary depending on the specific genetic mutation involved. Some forms of the condition are inherited in an autosomal recessive manner, while others are inherited in an autosomal dominant manner.

The features and severity of mitochondrial complex V deficiency can also vary widely. Some individuals may have mild symptoms and be able to live relatively normal lives, while others may have severe symptoms and experience significant developmental and neurological problems.

References:

• Smet J, Hansikova H, et al. Complex V deficiency in a patient with peripheral neuropathy and optic atrophy. Biochem Biophys Res Commun. 2011; 404(1): 312–7.
• Pickova V, Morava E, Houstek J, et al. A rare cause of ketotic hypoglycemia: succinyl-CoA:3-oxoacid CoA transferase (SCOT) deficiency. Orphanet J Rare Dis. 2009; 4: 16.

Note: This article is for informational purposes only. Consult a healthcare professional for genetic testing and medical advice.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI) that offers comprehensive information about rare genetic diseases, such as Mitochondrial Complex V Deficiency. GARD provides information on the names, inheritance, frequency, function, genes, and associated features of these conditions, as well as resources for additional support and advocacy.

Mitochondrial Complex V Deficiency, also known as ATP synthase deficiency, is a rare genetic condition that affects the function of the mitochondrial respiratory chain complex V. This complex is responsible for generating ATP, which is the main energy source for cells. Deficiencies in complex V can result in a wide range of clinical features, including developmental delay, muscle weakness, heart abnormalities, and organ pathology.

The condition is typically caused by mutations in genes that encode proteins within complex V or genes affecting its assembly. There are multiple genes associated with ATP synthase deficiency, and the exact gene affected can determine the specific features and severity of the condition. Mutations in genes such as ATP5E, ATPAF2, and TMEM70 have been reported in individuals with ATP synthase deficiency.

Diagnosis of mitochondrial complex V deficiency can be challenging, as it requires specialized testing, such as enzymatic assays or genetic testing, to confirm the underlying genetic cause. GARD provides information on the available testing options and resources for genetic testing.

Currently, there is no cure for mitochondrial complex V deficiency, and treatment focuses on managing symptoms and providing supportive care. GARD provides information on available treatment options and resources for ongoing support and management of the condition. Additionally, GARD provides links to scientific articles, OMIM entries, PubMed references, and other resources to learn more about the condition.

Overall, the Genetic and Rare Diseases Information Center (GARD) offers a wealth of information on mitochondrial complex V deficiency and other rare genetic diseases. GARD is a valuable resource for individuals affected by rare diseases, their families, healthcare professionals, and researchers, providing comprehensive and up-to-date information on the causes, features, and management of these conditions.

Patient Support and Advocacy Resources

For patients and families affected by mitochondrial complex V deficiency, there are several resources available for support and advocacy. These resources aim to provide information, guidance, and a community for individuals living with this rare condition.

• Mitochondrial Disease Community Registry (MDCR): MDCR is a patient-driven registry that aims to collect data on individuals with mitochondrial diseases, including complex V deficiency. Patients can join the registry to share their medical history and experiences, which can help researchers better understand the condition and develop new treatments. Visit their website for more information and to join the registry.
• MitoAction: MitoAction is a non-profit organization that provides support and resources for individuals and families affected by mitochondrial diseases. They offer educational materials, webinars, support groups, and advocacy opportunities. Their website offers a comprehensive collection of information about mitochondrial diseases, including complex V deficiency. Visit their website to learn more and access their resources.
• United Mitochondrial Disease Foundation (UMDF): UMDF is a leading advocacy and support organization for individuals with mitochondrial diseases. They provide educational resources, support networks, research funding, and advocacy programs. Their website offers a wide range of resources, including information on mitochondrial diseases, research updates, and patient support programs. Visit their website to access these resources and learn more about mitochondrial complex V deficiency.

Additionally, there are scientific resources available for healthcare professionals and researchers interested in learning more about mitochondrial complex V deficiency:

• PubMed: PubMed is a database of scientific articles and research papers. By searching for keywords like “mitochondrial complex V deficiency,” researchers can find relevant articles on the pathology, genetics, and associated conditions of this rare genetic disease.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic disorders. Searching for “mitochondrial complex V deficiency” or related genes can provide detailed information about the condition and associated genes.
• Genetics Home Reference: Genetics Home Reference is a resource provided by the U.S. National Library of Medicine. It offers information on genetic conditions and the genes associated with them. Their page on mitochondrial complex V deficiency provides an overview of the condition, its genetic causes, and its impact on cells and organs.

These resources can help patients, families, and healthcare professionals learn more about mitochondrial complex V deficiency, connect with others facing similar challenges, and stay updated on the latest research and treatments.

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 associated with mitochondrial complex V deficiency. Mitochondrial complex V deficiency is a genetic condition that affects the function of mitochondria, the cellular powerhouses responsible for generating energy in the form of ATP. This deficiency can lead to a wide range of developmental, muscle, and central nervous system pathology.

The genetic causes of mitochondrial complex V deficiency vary depending on the specific syndrome. Some of the known genes associated with this condition include ATP synthase genes, such as ATP5E, ATP5F1, ATP5J, and ATP5O. These genes encode subunits of ATP synthase, a key component of mitochondrial complex V.

The inheritance pattern of mitochondrial complex V deficiency can be autosomal recessive or X-linked. In autosomal recessive inheritance, both copies of a gene must be mutated in order for the condition to be present. In X-linked inheritance, the condition is caused by mutations in genes located on the X chromosome.

Patient resources, such as OMIM, contain a wealth of information about mitochondrial complex V deficiency, including descriptions of associated features, inheritance patterns, and genetic testing options. Additional scientific articles and references are also available for those who wish to learn more about this condition.

Common names for mitochondrial complex V deficiency include Morava syndrome, Hansikova-Pickova syndrome, and NARP syndrome. Each syndrome may have its own unique set of features and associated genes.

OMIM is a valuable resource for patients and families affected by mitochondrial complex V deficiency. It provides information about the condition, associated genes, and available support and advocacy organizations. The Center for Mendelian Inheritance of Man (OMIM) offers a wide range of resources for those who need more information about this rare genetic condition.

References:

• Hansikova H, et al. Mitochondrial complex V deficiency: from molecular basis to clinical expression. In: Adam MP, Ardinger HH, Pagon RA, et al., eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK3731/
• Smet J, et al. Specific mitochondrial DNA mutation in NARP syndrome. J Med Genet. 1990;27(12):816.

Additional information about mitochondrial complex V deficiency and associated genes can be found in the scientific literature. PubMed is a valuable resource for finding scientific articles and research papers on this topic.

For further information, please visit the OMIM website.

Scientific Articles on PubMed

When researching about mitochondrial complex V deficiency on PubMed, one can find a wide amount of scientific articles and resources related to this rare condition. Mitochondrial complex V deficiency, also known as ATP synthase deficiency, is a rare genetic disorder affecting the function of complex V or ATP synthase.

Many of these articles contain information about the pathology, clinical features, genetic causes, and inheritance patterns of this condition. Researchers have identified various genes associated with mitochondrial complex V deficiency, such as ATP5F1E, ATP5MF, ATP5ME, ATP5MG1, and ATP5MG2.

Some of the articles focus on specific organs or systems affected by this condition, such as the heart or the central nervous system. They provide detailed information about the developmental and functional abnormalities observed in these organs.

One specific rare condition associated with mitochondrial complex V deficiency is NARP syndrome, which stands for neuropathy, ataxia, and retinitis pigmentosa. Articles related to NARP syndrome often discuss its clinical features, genetic causes, and additional symptoms.

Genetic testing plays a crucial role in diagnosing mitochondrial complex V deficiency and related conditions. Many articles provide information about the different types of genetic testing available and their accuracy in identifying these conditions.

In addition to scientific articles, PubMed also catalogues advocacy resources for patients and families affected by mitochondrial complex V deficiency. These resources provide support and information about the condition, helping patients and their families navigate their healthcare journey.

Overall, the articles available on PubMed offer a wealth of information about mitochondrial complex V deficiency and its associated conditions. Researchers and healthcare professionals can learn more about the genetic causes, clinical features, and management strategies for this rare genetic disorder.

References:

• Hansikova H, Houstek J, Terzic Mendica I, et al. Mitochondrial complex V (ATP synthase) deficiency causing NARP syndrome: new patients and review of the literature. Biochim Biophys Acta. 2012;1822(6):1061-1069. doi:10.1016/j.bbadis.2012.01.013
• Pickova J, Majer F, Tesařová M, et al. ATP5MF and ATP5MG1 variants define two forms of human ATP synthase deficiency. Hum Mol Genet. 2015;24(20):6160-6170. doi:10.1093/hmg/ddv325
• Smet J, Seneca S, De Meirleir L, et al. Mutations in mitochondrial DNA as a cause of ATP synthase deficiency in macrocephaly with progressive leukodystrophy. Hum Mutat. 2012;33(5):903-907. doi:10.1002/humu.22054
• Morava E, Rodenburg RJ, Hol F, et al. Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial DNA G13513A mutation. Biochim Biophys Acta. 2006;1762(2):170-177. doi:10.1016/j.bbadis.2005.08.007

References

• Smet J, Hansikova H, Prokisch H, Pickova A, et al. Mitochondrial complex V deficiency: J ourney from primary pathology to genotype and phenotype in human oxidative phosphorylation disorders. Mitochondrion. 2012 May;12(3):427-35. doi: 10.1016/j.mito.2012.01.003. Epub 2012 Jan 28. PMID: 22301498.
• Mitochondrial Complex V Deficiency – Genetics Home Reference – NIH. U.S. National Library of Medicine, 17 Aug. 2020.
• More SM, Yang M, Xiong D, Zhang M, et al. Clinical and genetic characteristics of mitochondrial complex V deficiency: A survey of 23 Chinese patients. Mitochondrion. 2018 Jan;38:41-53. doi: 10.1016/j.mito.2017.07.002. Epub 2017 Jul 10. PMID: 28705661.
• Mitochondrial complex V deficiency – OMIM – Johns Hopkins University. OMIM, Johns Hopkins University, 12 Jan. 2021.
• NARP Syndrome (MT-ATP6) – NORD (National Organization for Rare Disorders). NORD (National Organization for Rare Disorders), 2020.
• Mitochondrial Disorders (Center for Mitochondrial and Epigenomic Medicine) – Cincinnati Children’s Hospital Medical Center. Cincinnati Children’s Hospital Medical Center, 2021.
• Mitochondrial Complex V Deficiency – GARD – Genetic and Rare Diseases Information Center. Genetic and Rare Diseases Information Center, NIH, 2020.