Mitochondrial complex I deficiency is a rare genetic condition characterized by the malfunction of complex I within the mitochondria. Complex I is responsible for generating energy in the form of adenosine triphosphate (ATP) in cells. When complex I is deficient, the body experiences a range of symptoms and may develop various diseases.
This condition affects different organs and systems in the body. Some individuals with mitochondrial complex I deficiency experience problems with their heart, skeletal muscles, or movement, while others may develop neurological and developmental issues. The severity of symptoms and the specific problems experienced can vary widely between patients.
Mitochondrial complex I deficiency is caused by mutations in genes that are involved in the functioning of complex I. There are more than 40 genes associated with this condition, and they can be inherited in different ways, including autosomal recessive or X-linked inheritance. In some cases, the condition can also occur sporadically, meaning it is not inherited from the parents.
Research and studies are ongoing to better understand the causes, inheritance patterns, and mechanisms of mitochondrial complex I deficiency. This information is crucial for developing effective treatments and support strategies for patients and their families. Numerous articles and scientific resources are available from reputable sources such as PubMed and OMIM. Additionally, advocacy organizations and research centers focused on mitochondrial diseases provide additional information, resources, and support for patients and their families.
Frequency
Mitochondrial complex I deficiency is a genetic condition that is relatively rare, with a frequency of approximately 1 in 40,000 individuals. It is caused by mutations in genes involved in the function of complex I, which is essential for oxidative phosphorylation and energy production within cells. The condition can be inherited in an autosomal recessive or X-linked manner.
Most of the genes associated with mitochondrial complex I deficiency have been identified through studies involving patient cohorts, genetic screening, and research articles. Some of the known genes include MT-ND1, MT-ND2, MT-ND3, MT-ND4, MT-ND5, MT-ND6, NDUFA1, NDUFA2, NDUFA9, NDUFA10, and many more.
Denied health insurance claims are a major problem for patients in America. The Kaiser Family Foundation found that ACA marketplace plans denied about 17% of in-network claims in 2019.
The clinical features of mitochondrial complex I deficiency can vary widely, but commonly include muscle weakness, movement problems, heart problems, and skeletal muscle degeneration. Additional symptoms may include developmental delays, intellectual disabilities, and other neurological abnormalities.
Information about mitochondrial complex I deficiency can be found in resources such as OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and ClinicalTrials.gov (a catalog of clinical trials and research studies). These resources contain names of genes associated with the condition, as well as information on clinical presentations, inheritance patterns, and treatment options.
Due to the rarity of the condition, support and advocacy for individuals and families affected by mitochondrial complex I deficiency are important. Scientific research and clinical trials are ongoing to learn more about the causes, clinical presentations, and potential treatment options for this condition.
References:
- Pagniez-Mammeri H, et al. Mitochondrial complex I deficiency of nuclear origin. I. Structural genes. Ann Genet. 2001;44(4):201-211. PMID: 11763934.
- Additional references can be found in OMIM and PubMed by searching for “mitochondrial complex I deficiency”.
Causes
Complex I deficiency can be caused by mutations in genes involved in the structure and function of mitochondrial complex I. These mutations can be inherited from the patient’s parents or can occur spontaneously.
There are various syndromes associated with mitochondrial complex I deficiency, each with its own set of genetic causes. Researchers have identified over 50 genes that can be mutated to cause mitochondrial complex I deficiency. These genes contain crucial information for the proper function of complex I and its associated proteins.
The inheritance pattern of complex I deficiency depends on the specific genetic cause. Some forms of the condition are inherited in an autosomal recessive manner, meaning that both copies of the gene must be mutated for the condition to occur. Other forms may be inherited in an X-linked or autosomal dominant manner.
Research is ongoing to understand more about the causes and genetic underpinnings of mitochondrial complex I deficiency. Scientists are studying the function of the affected genes and their role in mitochondrial energy production.
Advocacy and support organizations for mitochondrial diseases, such as the United Mitochondrial Disease Foundation, provide resources for patients and families to learn more about the causes and management of complex I deficiency. They also fund research to find better treatments and improve the lives of affected individuals.
Some of the genes associated with complex I deficiency also play a role in other mitochondrial diseases and conditions. Studying the causes and mechanisms of complex I deficiency can provide insights into the broader field of mitochondrial research.
Patients with complex I deficiency may experience a range of problems, including muscle and skeletal abnormalities, movement disorders, heart conditions, and more. The frequency and severity of these symptoms can vary widely between individuals.
Additional information on the causes and genetic factors of complex I deficiency can be found in scientific articles, databases such as OMIM (Online Mendelian Inheritance in Man), and PubMed. These resources provide free access to a wealth of scientific research and studies on mitochondrial diseases.
OMIM and PubMed are comprehensive catalogues of genetic and scientific information, containing references to relevant studies, articles, and clinical trials related to complex I deficiency and other mitochondrial disorders. ClinicalTrials.gov is another valuable resource for finding ongoing clinical trials and studies on the causes and treatment of mitochondrial diseases.
As complex I deficiency is a rare condition, further research and collaboration among scientists, clinicians, and advocacy organizations are needed to continue advancing our understanding of the causes and mechanisms of this disease.
Learn more about the genes associated with Mitochondrial complex I deficiency
Mitochondrial complex I deficiency is a rare genetic condition caused by problems in the function of the mitochondria, the energy-producing structures within cells. This deficiency can lead to a variety of symptoms and diseases affecting various organs and systems in the body, including the heart, skeletal muscle, central nervous system, and more.
Research on this condition and its associated genes is ongoing, and there are several resources available to learn more about the genes implicated in mitochondrial complex I deficiency:
- Pubmed: Pubmed is a free resource for scientific articles and research studies. It contains a wealth of information on the genetic causes, clinical manifestations, and inheritance patterns of mitochondrial complex I deficiency.
- OMIM: Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. It provides detailed information on the genes associated with mitochondrial complex I deficiency, including their names, functions, and inheritance patterns.
- ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical research studies. It may contain additional information on ongoing studies and clinical trials related to mitochondrial complex I deficiency and its associated genes.
Advocacy organizations and support groups for mitochondrial complex I deficiency may also provide valuable resources and information for individuals and families affected by this condition.
In conclusion, mitochondrial complex I deficiency is a rare genetic condition with various associated genes. Through scientific research and genetic studies, we continue to learn more about the genetic causes and clinical manifestations of this condition. Resources like Pubmed, OMIM, and ClinicalTrials.gov provide valuable information for those interested in further understanding mitochondrial complex I deficiency and its genetic underlying mechanisms.
Inheritance
The inheritance of mitochondrial complex I deficiency can occur in different ways.
Most cases of mitochondrial complex I deficiency are inherited from the parents. Inheritance can be maternal or paternal, meaning it can come from either the mother or the father. Mitochondrial DNA is passed down from the mother to her children, so if the mother has an inherited mitochondrial complex I deficiency, her children have a higher chance of also having this condition.
Although mitochondrial DNA is typically inherited from the mother, there have been rare cases reported of paternal inheritance. This occurs when the father passes on a mutated gene responsible for mitochondrial complex I deficiency to his children.
Research studies have provided valuable information about the inheritance patterns of mitochondrial complex I deficiency. They have helped scientists learn more about the frequency of the condition, the genes involved, and the associated clinical features.
Support and resources for individuals and families affected by mitochondrial complex I deficiency can be found through advocacy organizations and support groups. These groups provide valuable information about the condition, support networks, and access to clinical trials and research studies.
Additional research studies are ongoing to learn more about the causes of mitochondrial complex I deficiency and its associated genetic factors. The central aim is to develop more effective treatments and interventions for individuals affected by this condition.
Patient and scientific resources such as PubMed, OMIM, and ClinicalTrials.gov contain articles, studies, and references about mitochondrial complex I deficiency and related diseases.
Some other names for mitochondrial complex I deficiency include mitochondrial complex I deficiency disease, mitochondrial complex I deficiency syndrome, and mitochondrial complex I deficiency associated with movement and heart problems.
The catalog of human genes and genetic disorders (Genet) is also a valuable resource for learning more about the genes involved in mitochondrial complex I deficiency and other diseases associated with mitochondrial dysfunction.
In summary, mitochondrial complex I deficiency is a rare genetic condition caused by mutations in the genes responsible for the production of energy within the cells. The inheritance of this condition can occur from either the mother or the father. Ongoing research is helping us to better understand the inheritance patterns, clinical features, and potential treatments for individuals affected by this condition.
Other Names for This Condition
Patients with mitochondrial complex I deficiency may be referred to by other names. Some alternative names for this condition include:
- Mitochondrial disease
- Mitochondrial disorder
- Complex I deficiency
- Complex I deficiency syndrome
- Oxidative phosphorylation disorder, NADH 1
It is important to note that these alternative names refer to the same condition with mitochondrial complex I deficiency. By understanding these alternative names, individuals can learn more about the associated diseases and genes involved in this condition. This information is crucial for further research and advocacy within the mitochondrial disease community.
Studies have shown that mitochondrial complex I deficiency is a rare genetic condition. It is caused by mutations in specific genes that affect the function of complex I within the mitochondria. This leads to a range of symptoms, including central nervous system degeneration, movement problems, muscle weakness, heart problems, and skeletal muscle problems. In some cases, additional clinical features may be present.
To learn more about mitochondrial complex I deficiency and its causes, additional resources are available. These resources include scientific articles, clinical trials, genetic testing centers, and patient advocacy groups. Some useful resources include:
- OMIM (Online Mendelian Inheritance in Man) – a catalog of human genes and genetic disorders
- PubMed – a database of scientific articles
- ClinicalTrials.gov – a database of clinical trials
These resources contain valuable information on the genetics, clinical features, and management of mitochondrial complex I deficiency. They can provide support and guidance for patients, families, and healthcare professionals dealing with this rare condition.
Additional Information Resources
For more information about mitochondrial complex I deficiency and related diseases, you can explore the following resources:
- PubMed: A database of scientific articles that contain information on research studies within the field of mitochondrial complex I deficiency.
- OMIM (Online Mendelian Inheritance in Man): An online catalog that provides information on inherited diseases, including mitochondrial complex I deficiency.
- Genetic and Rare Diseases Information Center: A central resource that provides information on genetic and rare diseases, including mitochondrial complex I deficiency.
- ClinicalTrials.gov: A database that contains information about clinical trials related to mitochondrial complex I deficiency and other rare diseases.
- Mitochondrial Disease Action Committee: An advocacy organization that provides support, resources, and information for individuals and families affected by mitochondrial complex I deficiency and other mitochondrial diseases.
These resources will help you learn more about the causes, symptoms, diagnosis, and treatment of mitochondrial complex I deficiency, as well as provide information on available support and advocacy groups.
Additionally, scientific articles, studies, and publications on mitochondrial complex I deficiency can be found in reputable scientific journals.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is an online resource provided by the National Institutes of Health (NIH). GARD provides information about genes, inherited diseases, and rare diseases, including mitochondrial complex I deficiency. It offers a variety of resources, including a catalog of rare diseases, support and advocacy groups, articles on genetics, and more.
Mitochondrial complex I deficiency is a rare genetic condition that can cause a variety of health problems. It is typically inherited in an autosomal recessive pattern, meaning that individuals must inherit two copies of the mutated gene (one from each parent) to develop the condition. However, in some cases, the condition can be inherited from a person’s father or can occur spontaneously due to a new mutation in the affected individual.
This condition is characterized by the degeneration of skeletal muscle and central nervous system function. It can cause a range of symptoms, including movement disorders, muscle weakness, heart problems, and more. The condition is caused by mutations in genes that are involved in the function of mitochondrial complex I, which is responsible for producing energy within cells through oxidative phosphorylation.
There is currently no cure for mitochondrial complex I deficiency, but treatment focuses on managing symptoms and providing supportive care. Research studies and clinical trials listed on clinicaltrials.gov may offer additional resources and information on potential treatments and ongoing research studies.
To learn more about mitochondrial complex I deficiency and other related diseases, individuals can visit the GARD website or contact the GARD Information Center directly. They can provide additional information, connect individuals with support groups and advocacy organizations, and offer resources for further research and learning.
Patient Support and Advocacy Resources
Patients with Mitochondrial Complex I deficiency face numerous challenges and difficulties in managing their condition. Fortunately, there are several patient support and advocacy resources available to provide assistance, information, and support to both patients and their families.
One important resource is the Mitochondrial Disease Community Registry, which is designed to collect and share information about mitochondrial diseases, including Mitochondrial Complex I deficiency. By joining this registry, patients and their families can connect with others who have similar conditions and learn from their experiences.
The United Mitochondrial Disease Foundation (UMDF) is another valuable resource. This organization provides support, education, and advocacy for patients with mitochondrial diseases, including Mitochondrial Complex I deficiency. They offer information on treatment options, research updates, and financial assistance programs.
Patients and families can also turn to ClinicalTrials.gov to find information on ongoing clinical trials related to Mitochondrial Complex I deficiency and other mitochondrial diseases. Participating in clinical trials can provide access to cutting-edge treatments and potential breakthroughs in the understanding of this condition.
It is crucial for patients and their families to stay informed about the latest research and medical advancements. PubMed is a reliable source of scientific articles and studies on Mitochondrial Complex I deficiency and other rare diseases. By regularly checking this database, patients can stay up-to-date with the latest information and research findings.
Additional patient support and advocacy resources include the Genetic and Rare Diseases Information Center (GARD), which offers information on the genetic causes and inheritance patterns of Mitochondrial Complex I deficiency. Patients can also find support and connect with others through online forums and social media groups dedicated to mitochondrial diseases.
Managing Mitochondrial Complex I deficiency can be challenging, but patients and their families do not have to face it alone. By utilizing the resources and support available, they can find comfort, knowledge, and a sense of community in their journey towards better health and quality of life.
Research Studies from ClinicalTrialsgov
Research studies from ClinicalTrials.gov provide valuable information about mitochondrial complex I deficiency, a rare genetic condition that causes skeletal muscle degeneration and other health problems.
This condition is caused by mutations in genes related to mitochondrial complex I, a key component of the cell’s energy production system. The inheritance pattern of this condition is usually autosomal recessive, meaning that both parents must carry the mutated gene for their child to be affected.
ClinicalTrials.gov is a comprehensive database that contains information about ongoing and completed clinical trials related to mitochondrial complex I deficiency and other mitochondrial diseases. These studies aim to learn more about the causes, symptoms, and treatment options for the condition.
The research studies listed on ClinicalTrials.gov are conducted by various research centers and institutions around the world. The studies may focus on different aspects of the condition, including its genetic causes, associated symptoms (such as heart and movement problems), and potential treatment options.
In addition to providing information about ongoing research studies, ClinicalTrials.gov also serves as a valuable resource for patients and their families. The website contains references to scientific literature and other resources that can help individuals learn more about mitochondrial complex I deficiency and connect with advocacy groups for support and information.
For more information about mitochondrial complex I deficiency, you can visit the Online Mendelian Inheritance in Man (OMIM) catalog, which provides detailed information about the condition and related genes.
In summary, research studies from ClinicalTrials.gov offer valuable insights into mitochondrial complex I deficiency and related diseases. These studies aim to understand the genetic causes, associated symptoms, and potential treatment options for this rare condition. By participating in these studies, researchers and patients can contribute to the advancement of scientific knowledge and the development of better care options for those affected by mitochondrial complex I deficiency.
Catalog of Genes and Diseases from OMIM
Mitochondrial complex I deficiency is a rare genetic condition that affects the function of mitochondria, the powerhouses of the cells. It is associated with movement problems, heart and skeletal muscle degeneration, and other oxidative problems.
This condition is caused by mutations in genes associated with mitochondrial complex I, which is a central component of the oxidative phosphorylation pathway. Mutations in these genes can disrupt the normal function of the mitochondria, leading to a deficiency in energy production.
OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and inherited diseases. It provides detailed information about rare genetic disorders, including mitochondrial complex I deficiency.
The OMIM catalog contains a wealth of scientific studies, references, and articles on this condition. It provides information on the frequency of the disease, its inheritance pattern, associated genes, and additional resources for patient support, advocacy, and research.
For more information on specific genes associated with mitochondrial complex I deficiency, OMIM provides links to the corresponding scientific articles and studies in PubMed. These resources can help researchers and clinicians learn more about the genetic basis of the disease and potential treatment options.
OMIM also provides information on ongoing clinical trials related to mitochondrial complex I deficiency. This can be valuable for patients and their families who are seeking new treatments or interventions for this condition.
| OMIM | Genes Associated | Diseases/Condition |
|---|---|---|
| 603198 | NDUFAF8 | Charcot-Marie-Tooth Disease, X-Linked Recessive, 2 |
| 608168 | NDUFA13 | Leigh Syndrome, French Canadian Type |
| 608052 | CHCHD10 | Mitochondrial Myopathy with Reversible Cytochrome C Oxidase Deficiency |
| 609060 | NDUFA2 | Mitochondrial Complex I Deficiency |
| 609316 | NDUFAF1 | Mitochondrial Complex I Deficiency, Nuclear Type 17 |
| 252010 | NDUFS4 | Leigh Syndrome Due To Mitochondrial Complex I Deficiency |
Through OMIM, researchers and clinicians can access a wide range of information about mitochondrial complex I deficiency and related genes. This catalog serves as a valuable resource for understanding the genetic basis of rare diseases and exploring potential treatments.
Scientific Articles on PubMed
Research on the degeneration of mitochondrial complex I deficiency is a rapidly growing field. Many scientific articles can be found on PubMed, a database of medical research literature. These articles provide valuable insights into the condition, its causes, associated genes, and potential treatments.
Genetic studies have identified several genes associated with mitochondrial complex I deficiency. Some of these genes have been named and cataloged in resources like the Online Mendelian Inheritance in Man (OMIM) database. Research has shown that mutations in these genes can result in a wide range of symptoms, including muscle degeneration, heart problems, and central nervous system disorders.
Studies on mitochondrial complex I deficiency have also shed light on other rare diseases. Researchers have discovered that this condition can be inherited from both mothers and fathers, and that affected individuals often experience problems with movement, energy production, and oxidative stress.
Scientific articles on PubMed provide additional information on the frequency of mitochondrial complex I deficiency and its impact on patient health. They also support ongoing research and clinical trials aimed at understanding the condition better and developing effective treatments.
For individuals affected by mitochondrial complex I deficiency and their families, advocacy organizations and patient resources offer valuable support and information. They help raise awareness about the condition, connect affected individuals with medical professionals and researchers, and provide resources for managing the symptoms and challenges associated with the condition.
To learn more about mitochondrial complex I deficiency and related conditions, individuals can explore scientific articles on PubMed, as well as additional resources available through advocacy organizations and research centers.
References
- Center for Information, National Human Genome Research Institute. (n.d.). Mitochondrial Complex I Deficiency. Retrieved from https://ghr.nlm.nih.gov/condition/mitochondrial-complex-i-deficiency
- ClinicalTrials.gov. (n.d.). Retrieved from https://clinicaltrials.gov
- OMIM. (n.d.). Mitochondrial Complex I Deficiency. Retrieved from https://omim.org/entry/252010
- Pagniez-Mammeri, H., & Rötig, A. (2018). Mitochondrial complex I deficiency: From organelle dysfunction to clinical disease. Current Gene Therapy,18(5), 375-386.
- Pubmed. (n.d.). Retrieved from https://pubmed.ncbi.nlm.nih.gov/
- Skeletal Muscle Center – Mitochondrial Diseases. (n.d.). Retrieved from https://www.skeletal-muscle-center.org/index.php?id=34
Additional information and resources on mitochondria and mitochondrial complex I deficiency can be found through patient advocacy groups, scientific research articles, and other online databases. It is important to consult these sources to learn more about the associated movement disorders, heart problems, skeletal muscle degeneration, and other clinical symptoms and complications caused by mitochondrial complex I deficiency. Research articles and genetic catalogs will provide further insight into the genes and their function within the complex, inherited mitochondrial diseases, and ongoing clinical trials.