Mitochondrial complex III deficiency

Mitochondrial complex III deficiency, also known as the deficiency of cytochrome bc1 complex, is a rare genetic condition that affects the function of the mitochondrial complex III, an essential component of the mitochondrial respiratory chain. This condition is caused by mutations in genes located in both the nuclear and mitochondrial DNA.

Complex III deficiency can lead to a wide range of symptoms and can affect various organs and tissues, including the heart, muscles, and brain. Symptoms can include muscle weakness, exercise intolerance, respiratory problems, developmental delays, and neurological issues. The severity of the condition can vary widely, with some individuals experiencing mild symptoms while others may have severe and life-threatening complications.

The exact frequency of complex III deficiency is unknown, but it is considered to be a rare condition. It is thought to be inherited in an autosomal recessive manner, which means that individuals with the condition inherit one copy of the mutated gene from each parent. Because the mitochondrial DNA is inherited maternally, affected individuals can pass the condition on to their children, but the severity and symptoms can vary.

There is currently no cure for mitochondrial complex III deficiency, and treatment focuses on managing the symptoms and providing supportive care. Genetic testing can be done to confirm a diagnosis and determine the specific genetic mutations involved. Additionally, resources such as scientific articles, clinical trials, patient support groups, and advocacy organizations can provide more information and support for individuals and their families affected by this rare condition.

For more information about mitochondrial complex III deficiency, its causes, inheritance patterns, and available resources, additional information can be found on websites such as PubMed, OMIM, and the Mitochondrial Disease Support Center. These resources provide up-to-date information, research articles, and references for further reading.

Frequency

Mitochondrial Complex III Deficiency is a rare genetic condition that affects the energy-producing centers in cells known as the mitochondria. The exact frequency of this condition is not well-defined, but it is thought to be a rare disorder.

According to the resources available on OMIM, the Online Mendelian Inheritance in Man database, mutations in various genes have been associated with this condition. These genes include MT-CYB, which encodes a subunit of mitochondrial complex III, and other nuclear genes such as UQCRB, UQCRC2, and UQCRQ. Mutations in these genes can cause problems with oxidative phosphorylation, the process by which cells generate energy from oxygen.

The exact inheritance pattern of Mitochondrial Complex III Deficiency can vary depending on the specific genetic mutation involved. Some cases are thought to be inherited in an autosomal recessive manner, meaning that an individual must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Others may be caused by mutations in the mitochondrial DNA (mtDNA), which is inherited only from the mother.

Due to the rarity of Mitochondrial Complex III Deficiency, the frequency of carriers in the general population is unknown. However, it is important for individuals with a family history of the condition or related mitochondrial diseases to consider genetic testing and counseling.

Additional information on the frequency and genetic causes of Mitochondrial Complex III Deficiency can be found in scientific publications and databases such as PubMed and the Human Gene Mutation Database (HGMD). These resources provide comprehensive information on various genes associated with mitochondrial diseases, including Mitochondrial Complex III Deficiency.

References:

Gabaldón T, et al. (2019). Mitochondria and Complex III: An Overview of Mitochondrial Diseases. Genes (Basel). 10(11):851. doi: 10.3390/genes10110851. PMID: 31684076.
Blázquez A, et al. (2019). Mitochondrial complex III deficiency: a review of complex III assembly defects and of individual mutations found in South American patients. Mem Inst Oswaldo Cruz. 114:e190155. doi: 10.1590/0074-02760190155. PMID: 31618393.
Martin MA, et al. (2000). Genotype-phenotype correlation in cytochrome b deficiency due to a novel splicing mutation. Ann Neurol. 48(6): 976-979. doi: 10.1002/1531-8249(200012)48:6<976::aid-ana12>3.0.co;2-t. PMID: 11117570.
Ugalde C, et al. (1997). Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy. Hum Mol Genet. 6(5): 521-527. doi: 10.1093/hmg/6.5.521. PMID: 9097970.

Causes

Mitochondrial complex III deficiency is a rare genetic condition that is caused by mutations in genes involved in the structure and function of the mitochondrial respiratory chain. There are several known causes of mitochondrial complex III deficiency, including:

Mutations in mitochondrial DNA (mtDNA): Mitochondria have their own DNA, known as mtDNA, which is passed down from mother to child. Mutations in mtDNA can disrupt the production of proteins that are essential for the function of complex III.
Mutations in nuclear genes: In addition to mtDNA mutations, mutations in genes located in the cell nucleus can also cause mitochondrial complex III deficiency. These genes encode proteins that are involved in the assembly and function of complex III.

It is thought that mitochondrial complex III deficiency can also be caused by other factors, such as problems with the assembly of the respiratory chain or defects in the phosphorylation process that generates ATP, the main source of energy in cells.

Some of the known genes associated with mitochondrial complex III deficiency include:

Gene	OMIM	Frequency
MT-CYB	516020	Rare
BLOC1S1	615464	Rare
UBIAD1	610513	Rare
MT-CO1	516030	Rare

Additional genes associated with mitochondrial complex III deficiency can be found in the OMIM catalog and scientific articles.

The inheritance pattern of mitochondrial complex III deficiency can vary depending on the specific gene and mutation involved. Some cases are inherited in an autosomal recessive manner, which means that a person must inherit two copies of the mutated gene (one from each parent) in order to develop the condition. Other cases are caused by mutations in mtDNA and may show different inheritance patterns.

For more information about the genes associated with mitochondrial complex III deficiency and their role in the condition, resources such as OMIM, PubMed, and scientific articles can provide additional information.

Learn more about the genes and chromosome associated with Mitochondrial complex III deficiency

Mitochondrial complex III deficiency is a rare genetic condition. It is caused by mutations in genes associated with the mitochondrial respiratory chain complex III. This complex is responsible for the phosphorylation of molecules involved in energy production within the cells.

There are several genes that have been found to be associated with Mitochondrial complex III deficiency, including MTND1, MTND2, MTND3, MTND4, MTND4L, MTND5, MTND6, and MTCO3. These genes are located in the mitochondrial DNA (mtDNA) and are inherited exclusively from the mother.

Additionally, some cases of Mitochondrial complex III deficiency can be caused by mutations in nuclear genes, which are located in the chromosomes. These nuclear genes include UQCRB, UQCRC2, UQCRQ, and BCS1L.

Patients with Mitochondrial complex III deficiency often present with a range of symptoms, including muscle weakness, movement problems, heart abnormalities, and other metabolic issues. The severity of the condition can vary, and some patients may have mild symptoms while others may experience more severe manifestations.

If you want to learn more about the genes and chromosome associated with Mitochondrial complex III deficiency, you can find valuable information from various resources. The OMIM database (Online Mendelian Inheritance in Man) has a comprehensive catalog of genes and information about complex III deficiency.

An advocacy organization called the Rare Disease Genetics Consortium (RDGC) also provides resources and support for individuals and families affected by Mitochondrial complex III deficiency. They have articles, patient testimonies, and other helpful information on their website.

In addition, the National Center for Biotechnology Information (NCBI) provides resources for researchers and clinicians working on Mitochondrial complex III deficiency. Their website has a wealth of information on the genes involved in this condition, as well as other mitochondrial diseases.

In conclusion, Mitochondrial complex III deficiency is a complex condition with various genetic causes. The genes associated with this condition can be found in both the mitochondrial DNA and the chromosomes. Learning more about these genes and the chromosome involved can provide better understanding of this disease and potentially lead to improved treatment options in the future.

Inheritance

Mitochondrial complex III deficiency is a genetic condition that is inherited in an autosomal recessive pattern. This means that both copies of the affected gene must be mutated in order for the disease to be present.

Other Names for This Condition

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

Complex III deficiency
MT-CYB deficiency
Muscle and heart mitochondrial DNA depletion syndrome 7

This condition is linked to genetic changes in the MT-CYB gene located on chromosome 1. It affects the function of the mitochondrial complex III, which is a key player in the oxidative phosphorylation chain within the mitochondria. These genetic changes can be inherited from the parents or may occur spontaneously.

Patients with mitochondrial complex III deficiency often experience a wide range of symptoms, including muscle weakness, movement problems, and heart disease.

In addition to the MT-CYB gene, other genes have been associated with this condition. Some of these genes include UQCRB, UQCRQ, and CYC1. Further scientific research is underway to understand the exact role of these genes in causing mitochondrial complex III deficiency.

To diagnose this condition, genetic testing is usually performed to identify the specific genetic changes. This can provide valuable information for patients and their families regarding the inheritance pattern and potential risk for future generations.

There are rare cases where patients with mitochondrial complex III deficiency carry extra copies of mitochondrial DNA (mtDNA) in their cells. These extra copies can contribute to the severity of the disease.

For more information about mitochondrial complex III deficiency, you can visit resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and advocacy groups that support individuals and families affected by this condition.

Additional Information Resources

For more information about mitochondrial complex III deficiency, consider the following resources:

Mitochondrial Disease News – This online publication covers the latest news, research, and developments related to mitochondrial diseases, including complex III deficiency. Visit their website for articles and updates on this condition.
Mitochondrial Disease Catalog – The Mitochondrial Disease Catalog is a comprehensive database that provides information on various mitochondrial disorders, including complex III deficiency. It offers details on the genetic causes, frequency, inheritance patterns, associated symptoms, and more.
PubMed – PubMed is a scientific research database that contains a vast collection of articles from medical and scientific journals. By searching for “mitochondrial complex III deficiency” or related terms, you can access scientific studies, case reports, and clinical trials related to this condition.
Mitochondrial Disease Advocacy Center – This advocacy center provides support, resources, and educational materials for patients diagnosed with mitochondrial diseases and their families. They offer information on research, treatment options, patient stories, and access to support networks.
Movement Disorders Journal – The Movement Disorders Journal publishes peer-reviewed articles on various movement disorders, including mitochondrial disorders. You can find scientific studies and research papers related to the neurological symptoms and movement problems associated with mitochondrial complex III deficiency.

These resources can provide additional information on the genetic causes, symptoms, inheritance patterns, and treatment options for mitochondrial complex III deficiency. They can also help you stay up to date with the latest scientific advancements and ongoing research in this field.

Genetic Testing Information

Genetic testing is an important tool in the diagnosis and management of Mitochondrial Complex III Deficiency. It can help identify the specific genetic mutations responsible for the condition and provide valuable information for patients and their families. Here, we provide some resources and information about genetic testing for this rare condition.

What is Mitochondrial Complex III Deficiency?

Mitochondrial Complex III Deficiency is a rare genetic condition that affects the function of mitochondria in cells. The mitochondria are responsible for producing energy in the form of ATP, and disruptions in their function can lead to a wide range of symptoms and health problems.

Causes and Inheritance

Mitochondrial Complex III Deficiency is caused by mutations in genes associated with the complex III of the mitochondrial respiratory chain. These genes can be located in either the mitochondrial DNA or the nuclear DNA. The inheritance pattern of this condition can vary depending on the specific gene involved, and genetic testing can help determine the mode of inheritance in individual cases.

Genetic Testing Resources

There are several resources available for genetic testing and genetic counseling for Mitochondrial Complex III Deficiency:

Mitochondrial Disorders Gene Panel: This is a specialized panel of genetic tests that targets genes involved in various mitochondrial disorders, including Complex III Deficiency.
OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes, genetic disorders, and associated research articles.
Scientific Articles and Publications: Many scientific articles and publications are available on the topic of Mitochondrial Complex III Deficiency, providing further insights into the condition and its genetic basis.
Patient Advocacy Groups: Various patient advocacy groups and foundations offer information and support for individuals and families affected by Mitochondrial Complex III Deficiency.
Genetic Testing Centers: There are specialized genetic testing centers that offer testing services for Mitochondrial Complex III Deficiency and other mitochondrial disorders.

Additional Information

It is important to note that genetic testing alone may not provide a definitive diagnosis for Mitochondrial Complex III Deficiency. Additional tests, such as biochemical analysis of muscle or enzyme activity assays, may be necessary to confirm the diagnosis.

Genetic testing can provide valuable information for patients and their families, helping in the management and understanding of Mitochondrial Complex III Deficiency. It is recommended to consult with a healthcare provider or genetic counselor to learn more about the available resources and testing options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for information on a wide range of genetic and rare diseases. GARD provides valuable information on the causes, symptoms, diagnosis, and treatment of various conditions, including Mitochondrial Complex III Deficiency (MC3D). MC3D is a rare genetic disorder that affects mitochondrial function, resulting in impaired oxygen phosphorylation and causing a range of associated problems.

MC3D is caused by mutations in genes involved in the assembly and function of mitochondrial complex III, a key component of the electron transport chain. The condition can be inherited in different ways, depending on whether the mutations are in mitochondrial DNA (mtDNA) or nuclear DNA. Mutations in mtDNA can be inherited from the mother, while mutations in nuclear DNA follow different inheritance patterns.

Symptoms of MC3D can vary widely depending on the specific mutations and the amount of functional copies of the affected gene. Common symptoms may include muscle weakness, movement problems, heart defects, thought and cognitive delays, and various other health issues. The severity of symptoms can also vary, and some individuals may have few or mild symptoms, while others may experience more severe complications.

Testing and Diagnosis

Genetic testing is often necessary to confirm a diagnosis of MC3D. This typically involves DNA testing to identify mutations in the genes associated with the condition. Additional testing, such as muscle biopsies or specialized laboratory tests, may also be required to further evaluate mitochondrial function.

It is important for patients and their families to seek support and information about their condition. GARD provides resources and advocacy for individuals with MC3D and other mitochondrial diseases. The GARD website offers articles, scientific publications, and information from other reliable sources such as OMIM and PubMed. These resources can provide more information about the disease, its frequency, associated problems, and available support services.

The GARD website also includes information on advocacy groups, patient support organizations, and rare disease registries that can offer additional support, access to clinical trials, and resources for patients and families affected by MC3D and other rare genetic conditions.

Frequency and Inheritance

The exact frequency of MC3D is unknown, but the condition is considered to be rare. It has been reported in various populations around the world, and its prevalence may vary depending on the specific genetic mutations involved.

GARD offers comprehensive information on the inheritance patterns of MC3D and other genetic conditions. This information can be helpful for individuals and families who are interested in understanding the likelihood of passing on the condition to future generations.

For more information on Mitochondrial Complex III Deficiency and other rare genetic diseases, visit the GARD website at https://rarediseases.info.nih.gov/.

Patient Support and Advocacy Resources

Patient support and advocacy resources play a crucial role in providing assistance, guidance, and information to individuals and families affected by mitochondrial complex III deficiency. These resources aim to empower patients and their loved ones by offering support networks, educational materials, and access to scientific advancements in the field.

One important organization that provides support for individuals affected by mitochondrial diseases, including mitochondrial complex III deficiency, is the MitoAction. MitoAction offers a variety of resources, including educational materials, webinars, support groups, and personal advocacy. They aim to bring together individuals and families to share experiences and provide emotional support.

Another valuable resource is the United Mitochondrial Disease Foundation (UMDF), which provides information and resources for patients and families affected by mitochondrial diseases. The UMDF offers support groups, educational materials, and access to scientific literature through their website. They also fund research initiatives to better understand and treat mitochondrial disorders, including mitochondrial complex III deficiency.

In addition to these organizations, there are also numerous scientific publications and articles available to learn more about mitochondrial complex III deficiency. The Genetics Home Reference and OMIM (Online Mendelian Inheritance in Man) databases provide detailed information about the genetic causes of this condition, associated symptoms, and inheritance patterns. Scientific articles indexed on PubMed offer further insights into the molecular mechanisms and potential treatment options for this rare disease.

Genetic testing is essential to accurately diagnose mitochondrial complex III deficiency. Healthcare professionals, often in collaboration with genetic counselors, can guide patients and their families through the testing process and provide detailed information about the significance of identified genetic variants. Understanding the genetic underpinnings of the condition can help patients and their families make informed decisions regarding treatment options and family planning.

Overall, patient support and advocacy resources serve as indispensable tools for individuals and families affected by mitochondrial complex III deficiency. They offer a sense of community, as well as access to up-to-date information and advancements in research. By utilizing these resources, patients can better understand their condition and navigate the challenges associated with movement disorders, muscle weakness, heart problems, and other symptoms commonly associated with mitochondrial complex III deficiency.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides information on the causes, symptoms, and inheritance patterns of various genetic diseases, including mitochondrial complex III deficiency. This rare condition affects the mitochondria, which are responsible for producing energy in cells. Mitochondrial complex III deficiency can lead to a wide range of symptoms, including heart and muscle problems, due to a deficiency in the electron transport chain.

There are several genes that have been associated with mitochondrial complex III deficiency, including MT-CYB and BCS1L. These genes carry the instructions for producing the proteins involved in the electron transport chain. Mutations in these genes can disrupt the function of complex III and lead to the condition.

Patients with mitochondrial complex III deficiency may experience symptoms such as muscle weakness, movement disorders, and problems with oxygen phosphorylation. The severity of the disease can vary from person to person, and its progression can be unpredictable.

OMIM provides additional resources and information about this condition, including scientific articles, references, and links to genetic testing centers. The catalog also includes advocacy and support resources for patients and their families.

For more information about mitochondrial complex III deficiency and other related diseases, the OMIM catalog is a valuable resource to learn about the genes involved, their functions, and the inheritance patterns associated with the condition.

Gene Name	Disease	Chromosome
MT-CYB	Mitochondrial Complex III Deficiency	Mitochondrial DNA
BCS1L	Mitochondrial Complex III Deficiency	2