48 Questions
What is the current term used to define diseases caused by mitochondria dysfunction resulting from mtDNA and nDNA variants?
Primary mitochondrial diseases
When was the first genetic link demonstrated for Leber Hereditary Optic Neuropathy (LHON)?
1988
What is the prevalence of mitochondrial diseases in the adult population?
About 23/100,000
What type of inheritance pattern do mitochondrial diseases exhibit due to variants in nuclear genes and mitochondrial genes involved in forming functional mitochondria?
Complicated inheritance pattern
From which source are mitochondrial gene variants primarily inherited?
mtDNA via maternal inheritance
What is the term used to describe the proportion of mutant mitochondria in a cell?
Heteroplasmic proportion
Which type of mutations occur in gametes and somatic cells, contributing to mitochondrial diseases?
De-novo mutations
In addition to maternal inheritance, what other factors contribute to the inheritance of mitochondrial diseases?
Autosomal and X-chromosome genes
What is the term used to describe the phenomenon of variable penetrance and expressivity at the organism, organ, and cell type level?
Variable penetrance and expressivity
What is the term for the effect related to heteroplasmic proportion and age, where compensatory mechanisms up-regulate mitochondrial biogenesis to compensate for reduced functionality?
Threshold effect
What is the term used to describe mitochondrial diseases that are multifactorial with environmental components that accelerate disease onset?
Multifactorial diseases
Which environmental components are mentioned as accelerating disease onset, specifically with Leber Hereditary Optic Neuropathy (LHON)?
Smoking and alcohol consumption
Which type of mutations mostly result from deletions of several genes?
De-novo mutations
What is the focus of metabolomic markers in clinical diagnosis of mitochondrial diseases?
Plasma or cerebrospinal fluid markers of mitochondrial insufficiency
What is the main focus of treatment for mitochondrial diseases?
Slowing progression of the disease and supportive care
What technology can be used for future offspring for mtDNA variants?
Assisted reproductive technologies
Which type of genetic therapy cure has potential for nDNA causing variants?
Genetic therapy using nDNA gene transfer
What is the term used to describe the age-dependent mortality observed in mitochondrial diseases?
Age-dependent mortality
What is the main focus of biopsy in clinical diagnosis of mitochondrial diseases?
Skeletal muscle and measurement of mitochondrial enzyme activity
What is the primary focus of genetic testing for mitochondrial diseases?
mtDNA or mtDNA + nDNA
What is the term used to describe the phenomenon of cell-type specific manifestations in mitochondrial diseases?
Cell-type specificity
What is the primary focus of assisted reproductive technologies for future offspring with mtDNA variants?
Testing of blastocyst for variant and degree of heteroplasmy
What is the current focus of clinical trials for mitochondrial diseases related to LHON?
nDNA gene transfer for mtDNA genes
What is the main focus of genetic therapy for existing patients with mtDNA variants?
Inaccessibility of mtDNA by current technologies
What is the primary focus of genetic testing for mitochondrial diseases?
Identifying mtDNA and nDNA variants coding for proteins intrinsic to or involved in the formation of mitochondria
What is the term used to describe the proportion of mutant mitochondria in a cell?
Heteroplasmic proportion
From which source are mitochondrial gene variants primarily inherited?
Maternal inheritance
What is the term used to describe the phenomenon of variable penetrance and expressivity at the organism, organ, and cell type level?
Variable penetrance
What is the term used to describe the age-dependent mortality observed in mitochondrial diseases?
Age-dependent penetrance
What is the main focus of treatment for mitochondrial diseases?
Symptomatic management
What technology can be used for future offspring for mtDNA variants?
Assisted reproductive technologies
What is the prevalence of mitochondrial diseases in the adult population?
About 23/100,000
What is the term for the effect related to heteroplasmic proportion and age, where compensatory mechanisms up-regulate mitochondrial biogenesis to compensate for reduced functionality?
Threshold effect
What is the current term used to define diseases caused by mitochondria dysfunction resulting from mtDNA and nDNA variants?
Primary mitochondrial diseases
What is the term used to describe mitochondrial diseases that are multifactorial with environmental components that accelerate disease onset?
Multifactorial diseases
Which type of mutations occur in gametes and somatic cells, contributing to mitochondrial diseases?
De-novo mutations
What is the main focus of clinical diagnosis for mitochondrial diseases?
Phenomic markers and metabolomic markers
What type of mutations mostly result from deletions of several genes?
De-novo mutations
What is the main focus of treatment for mitochondrial diseases?
Slowing progression of the disease and supportive care
What technology can be used for future offspring for mtDNA variants?
Three-parent zygote via transfer of egg nucleus of the diseased mother into non-diseased enucleated egg then fertilization
What is the primary focus of genetic testing for mitochondrial diseases?
mtDNA mostly complete genome sequence with the ability to detect > 5% heteroplasmy
What is the term used to describe mitochondrial diseases that are clinically heterogeneous?
Phenotypes of mitochondrial diseases
What is the term used to describe the phenomenon of cell-type specific manifestations in mitochondrial diseases?
Cell-type specific to syndromic
What is the focus of metabolomic markers in clinical diagnosis of mitochondrial diseases?
Plasma or cerebrospinal fluid markers of mitochondrial insufficiency
What is the term for the effect related to heteroplasmic proportion and age, where compensatory mechanisms up-regulate mitochondrial biogenesis to compensate for reduced functionality?
Mitochondrial biogenesis compensation
What is the current focus of clinical trials for mitochondrial diseases related to LHON?
Nuclear gene transfer for mtDNA genes
What is the main focus of genetic therapy for existing patients with mtDNA variants?
Mitochondrial protein targeting sequence fused to the repaired protein
What is the term used to describe the proportion of mutant mitochondria in a cell?
Heteroplasmy
Test your knowledge of genetic diseases of mitochondria with this quiz. Learn about primary mitochondrial diseases, mtDNA and nDNA variants, and conditions such as Leber Hereditary Optic Neuropathy (LHON). Explore the prevalence of these diseases in different age groups.
Make Your Own Quizzes and Flashcards
Convert your notes into interactive study material.
Get started for free
