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What is a sentence for cancer?
The biopsy confirmed the diagnosis of bladder cancer.
Is mitochondrial DNA linear or circular in structure?
Mitochondrial DNA is circular in structure.
Is the mitochondrial membrane permeable to protons?
Yes, the mitochondrial membrane is permeable to protons.
How is the diagnosis of infant Patau syndrome confirmed through genetic testing?
Infant Patau syndrome is typically confirmed through genetic testing called karyotyping, which analyzes the structure and number of chromosomes. In Patau syndrome, there is an extra copy of chromosome 13, known as trisomy 13. This genetic test can identify the presence of an additional chromosome 13 in the cells of an affected individual.
Does mitochondrial DNA contain introns?
Yes, mitochondrial DNA does not contain introns. Mitochondrial DNA is a circular molecule that lacks introns, which are non-coding regions found in nuclear DNA.
Who are patients with mitochondrial myopathies referred to?
Persons with mitochondrial myopathies are referred to a clinical geneticist for management and further evaluation, particularly in the absence of a confident clinical diagnosis
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
What does the diagnostic criteria for mitochondrial myopathies involve?
The diagnostic criteria for mitochondrial myopathies involve phenotypic evaluation (or evaluation of observable traits), followed by laboratory evaluation
What do the symptoms of mitochondrial myopathies depend on?
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
What defects can be present in individuals with mitochondrial myopathies?
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
What does the prognosis for mitochondrial myopathies depend on?
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
How was the identification of nDNA mutations that cause mitochondrial myopathies first made?
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
Ragged red fiber is a sign of an abnormality in what?
It can be seen in a variety of conditions. However, it is frequently associated with muscle disorders known as "mitochondrial myopathies."
When can the symptoms of mitochondrial myopathies first appear?
These disorders can occur in infancy, childhood, or adulthood. In general, individuals with mitochondria dysfunction have abnormalities in the central nervous system
How is a diagnosis of melioidosis confirmed?
Diagnosis must then be confirmed through laboratory tests.
What dietary supplements may help patients with mitochondrial myopathies?
Creatine, coenzyme Q 10, and carnitine are naturally occurring supplements that are thought to enhance ATP production
What is a special concern for patients with mitochondrial myopathies?
the absence of a causative explanation for why the symptoms developed. This is especially challenging for determining recurrence risks for parents considering future pregnancies
