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We’ve recently added information to help you better understand mitochondrial diseases, a group of complex genetic disorders associated with numerous symptoms. These symptoms can be associated with other common conditions, making mitochondrial diseases difficult to correctly diagnose in a timely manner.
Our new content includes key definitions of primary mitochondrial diseases and primary mitochondrial myopathies, both found on our Browse by Type page. You can already find answers to common questions about some mitochondrial disorders, such as Barth syndrome, Leber hereditary optic neuropathy (LHON), and mitochondrial DNA depletion syndrome 1 (MNGIE type), within their relevant categories.
As 2018 continues, watch for more mitochondrial diseases be added to the ThinkGenetic knowledge base. As they are added, they will be found within the relevant category(ies) of mitochondrial disease.
✎ New Category Addition: Mitochondrial Diseases, Primary (mitochondrial DNA-encoded) or mtDNA PMDs
Primary mitochondrial diseases (PMDs) are a group of genetic diseases in which the mitochondria in the body’s cells do not develop or work properly. Mitochondria are tiny structures in the body where the chemical called ATP, the body’s energy source, is made. Mitochondria are in cells throughout the body in organs that have high energy demands, such as the muscles, heart, and brain. Mitochondrial DNA (mtDNA) has instructions for genes and proteins that allow mitochondria to make enough energy for the body. mtDNA is passed from mother to child (not from father to child). Mitochondrial DNA-encoded PMDs (mtDNA PMDs) are caused by changes (or mutations) in mtDNA genes. People with these diseases represent about 30% of all people with mitochondrial diseases. An example of a mtDNA condition is Leber hereditary optic neuropathy.
✎ New Category Addition:Mitochondrial Diseases, Primary (nuclear DNA-encoded) or nDNA PMDs
Primary mitochondrial diseases (PMDs) are a group of genetic diseases in which the mitochondria in the body’s cells do not develop or work properly. Mitochondria are tiny structures in the body where the chemical called ATP, the body’s energy source, is made. Mitochondria are in cells throughout the body in organs that have high energy demands, such as the muscles, heart, and brain. The main source of DNA in the body, called nuclear DNA (nDNA), has instructions for genes and proteins that allow mitochondria to make enough energy for the body. nDNA is passed from both parents to their children. Nuclear DNA-encoded PMDs (nDNA PMDs) are caused by changes (or mutations) in nDNA genes.Example of nDNA PMD conditions include: Barth syndrome and Mitochondrial DNA depletion syndrome 1 (MNGIE type). Learn More >>
✎ New Category Addition: Mitochondrial Myopathies, Primary or PMM
Primary mitochondrial myopathies (PMMs) are a group of genetic diseases in which the mitochondria in the body’s cells do not work properly. In PMMs, this has a major effect on a person’s muscle strength and function. Mitochondria are tiny structures in the body where the chemical called ATP, the body’s energy source, is made. Mitochondria are in cells throughout the body in organs that have high energy demands, such as the muscles, heart, and brain. Example of PMM conditions include: Barth syndrome and Mitochondrial DNA depletion syndrome 1 (MNGIE type). Learn More >>
► Recently Updated Conditions:
- 2-Methyl-3-Hydroxybutyric acidemia Deficiency (2M3HBA)
- 2-methylbutyrylglycinuria
- 3-hydroxy-3-methylglutaric aciduria (HMG)
- 3-methylcrotonyl-coa carboxylase deficiency (3-MCC)
- 3-methylglutaconic aciduria, type III
- Aarskog syndrome
- Barth syndrome
- CADASIL
- CDKL5 deficiency disorder
- Chromosome 1p36 deletion syndrome
- Down syndrome
- Ehlers-Danlos syndrome, Kyphoscoliotic type (type VI) (EDS Type VI)
- Ehlers-Danlos syndrome, Vascular type (type IV) (EDS TYpe IV)
- Fabry disease
- Glutaric acidemia type 1 (GA-1)
- Glutaric acidemia type 2 (GA-2 or Multiple acyl-CoA dehydrogenase deficiency (MADD) )
- Hemophilia A
- Hereditary hemorrhagic telangiectasia (HTT)
- Isovaleric acidemia
- Krabbe disease
- Leber hereditary optic neuropathy
- Long-chain 3-hydroxyacyl-coa dehydrogenase deficiency (LCHADD)
- Medium-chain acyl-CoA dehydrogenase deficiency (MCAD)
- Mitochondrial DNA depletion syndrome 1 (MNGIE type)
- Neuronal ceroid lipofuscinosis
- Nicolaides-baraitser syndrome (NCBRS)
- Propionic acidemia (PA)
- Short chain acyl-CoA dehydrogenase deficiency (SCADD)
- Trisomy 18
If you wish to see content about a genetic disease or condition added or modified, please contact us.
[Batch Update: 2018-01-09, 2017-12-20, 2017-12-15, 2017-12-05, 2017-11-29]
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