How are mitochondrial myopathies diagnosed?
The diagnosis of mitochondrial myopathies is initially clinical, which means that it is based on the observable clinical manifestations that the patient shows versus results obtained from genetic analysis or laboratory tests
The diagnostic criteria for mitochondrial myopathies involve phenotypic evaluation (or evaluation of observable traits), followed by laboratory evaluation
Persons with mitochondrial myopathies are referred to a clinical geneticist for management and further evaluation, particularly in the absence of a confident clinical diagnosis
Symptoms of mitochondrial myopathies are largely variable from person to person, even within the same family, and are dependent on the amount and type of genetic mutations present
Defects can involve seizures, movement disorders , headaches , and cognitive (thought) disorders such as developmental delay or dementia (forgetfulness, senility). People with mitochondrial myopathies can also have hearing loss
Life expectancy for a person with a mitochondrial myopathy depends on many different circumstances, including the percentage of mtDNA that is mutated, the type of mutation, and the tissue in which it is mutated
first made when a nuclear gene involved in mtDNA replication was found to be defective in a disorder involving a patient with a mitochondrial myopathy
It can be seen in a variety of conditions. However, it is frequently associated with muscle disorders known as "mitochondrial myopathies."
A clinical diagnosis can be confirmed by laboratory studies, muscle biopsy , and molecular genetic evaluation, in which a geneticist analyzes the mtDNA
These disorders can occur in infancy, childhood, or adulthood. In general, individuals with mitochondria dysfunction have abnormalities in the central nervous system
Creatine, coenzyme Q 10, and carnitine are naturally occurring supplements that are thought to enhance ATP production
the absence of a causative explanation for why the symptoms developed. This is especially challenging for determining recurrence risks for parents considering future pregnancies
NARP: neuropathy, ataxia and retinitis pigmentosa KS: Kearns-Sayre syndrome Leigh's syndrome PEO: progressive external ophthalmoplegia MILS: maternally inherited Leigh's syndrome MELAS: mitochondrial encephalomyopathy, lactic acidosis
a group of neuromuscular disorders that result from defects in the function of the mitochondrion, a small organelle located inside many cells that are responsible for fulfilling energy requirements of the tissue
Medications are tailored to reduce the specific symptoms that the patient is experiencing (anticonvulsant medication may be required, for example, for an individual suffering from seizures).
There are several classical clinical manifestations that warrant DNA studies, such as in the case of MELAS, MERRF or LHON. Other disorders such as MNGIE require nDNA studies
These mutations generally affect tissues that have a high demand for metabolic energy production. Some disorders only affect a single organ, but many involve multiple organ systems
Congenital myopathies are a group of myopathies, usually present from birth, that display structural changes in the skeletal muscles. The list of diseases defined as congenital myopathies varies.
Muscular Dystrophy, Cerebral Palsy, Fibrodysplasia Ossificans Progressiva, Dermatomyositis, Compartment Syndrome, Myasthenia Gravis, Amyotrophic Lateral Sclerosis, Mitochondrial Myopathies, Rhabdomyolysis, Polymyositis, Fibromyalgia, Myotonia, Myofascial Pain Syndrome and etc.
People affected with one of these disorders usually have muscle symptoms such as weakness, breathlessness, exercise intolerance, heart failure, dementia , stroke-like symptoms, deafness, blindness, seizures , heavy eyelids or eye problems, and/or vomiting
Physical therapy helps extend the range of muscle movement. Occupational therapy helps with positioning and mobility devices, and trains the affected individual in strategies designed to accomplish self-care and activities of daily living
Myopathies are diseases that cause weakness and hypotonia (poor tone) in the muscles that control voluntary movements.
Generally, nDNA mutations result in clinical symptoms that develop during early childhood, while mtDNA mutations (either directly or as secondary effects from a nDNA mutation) lead to clinical manifestations that develop in late childhood
As of 2004, there is no cure for the congenital myopathies. The purpose of treatment, which is largely supportive, is to help patients optimize function and to manage any medical complications associated with the disorder.
Three inherited conditions in particular are definitively known as congenital myopathies: central core disease, nemaline myopathy , and centronuclear (myotubular) myopathy.
Mitochondrial DNA codes for 13 mitochondrial proteins, 16S and 12S rRNA and 22 tRNAs
Mitochondrial DNA is localized in the matrix of the mitochondria.
Mitochondrial DNA comes from the mother, so the mother's maternal line and all her children share the same mitochondrial DNA.
They are muscular dystrophies, myopathies, multiple sclerosis.
An Individual inherits their mitochondrial DNA from the mother. Mitochondrial DNA is the smallest chromosome and was the first part of the human genome to be sequenced.
In most organisms, including humans, the mitochondrial DNA is inherited from the mother.
The mitochondrial matrix is enclosed by the highly folded inner mitochondrial membrane. The matrix houses the mitochondria's DNA and ribosomes.
Fever, Inflammatory myopathies, and vitamin A deficiency.
No. Mitochondrial diseases are passed on only by mothers. So, she will pass it to her son. But her son will not be able to pass it to his children, since mitochondrial diseases are passed solely by women. Most (if not all) mitochondrial DNA are of maternal origin.
Roberto Scatena has written: 'Advances in mitochondrial medicine' -- subject(s): Mitochondrial pathology, Mitochondrial Diseases, Effect of drugs on, Cells, Mitochondria, Physiology
None, mitochondrial DNA is inherited from the mother.
Mitochondrial DNA - journal - was created in 1980.
Yeast's is (~78kb), while human's is about 17kb
The inner mitochondrial is folded to increase the surface area for ATP synthase.
Mitochondrial diseases exist because the mitochondria have their own set of genes. These can have a mutation.
Lawrence J. Kagen has written: 'Myositis & Myopathies'
Some associated genes of human mitochondrial genome are the Eukaryotic cells and the cell nucleus. Mitochondrial DNA is inherited only from the mother's ovum.
The structure of the mitochondria include the inner mitochondrial membrane, the outer mitochondrial membrane, the intermembrane space, the cristae, and then the mitochondrial matrix. Click on the related link for a detailed description on the structure of the mitochondria.
No, mitochondrial genes are only passed down the maternal line. Male sperm only enters the egg with genetic material and male mitochondrial genes stay outside the egg, so only female mitochondrial genes are passed to progeny.
How does the inheritance of mitochondrial dna differ from the inheritance of dna found in the nucleus of cells?
Mitochondrial dna is inherited solely from the mother.
what is the relationship between mitochondrial nucleus and rough endoplasmic reticulum
Mitochondrial DNA is almost universally inherited from one's mother. I heard of a case of a man in Italy inheriting his mitochondrial DNA from his father, but I consider it likely he was also sterile--if indeed that did occur.
The Mitochondrial Matrix Contains The Enzymes Needed To Catalyze The Reactions Of Krebs Cycle.
what cell population would be most affected by mitochondrial cytopathies diease