p.4
Chromosome Structure and Function
What are the two types of chromosomes in animals?
Autosomes and sex chromosomes.
p.4
Chromosome Structure and Function
What must happen for a gene to be active?
The condensed DNA must revert to long strands for transcription into RNA.
p.3
DNA Damage Response (DDR)
What is the role of p53 in cellular senescence?
It is involved in the DNA damage response and can induce growth arrest.
p.2
Senescence-Associated Secretory Phenotype (SASP)
How can SASP factors affect cell proliferation?
Some promote proliferation while others inhibit it, depending on the context.
p.6
Genetic Diseases and Mutations
What causes immune-complex glomerulonephritis?
It is caused by the accumulation of immune complexes in the glomeruli.
p.7
Genetic Diseases and Mutations
What is the impact of cystic ovarian disease?
It affects ovarian function and can lead to reproductive issues.
p.9
Mitochondrial DNA and Metabolic Dysregulation
What is the primary function of mitochondria?
They are the cellular site of aerobic energy production.
p.1
Telomere Structure and Function
What is the function of telomerase in certain cells?
Telomerase replenishes telomeres, allowing for continued cell division.
p.9
Genetic Diseases and Mutations
What are alleles?
Different forms of a gene that can alter the gene product.
p.8
Genetic Diseases and Mutations
What is progressive retinal atrophy?
A genetic disorder that leads to the degeneration of the retina, causing vision loss.
p.7
Genetic Diseases and Mutations
What is the role of collagen dysplasias?
They are disorders affecting the structure and function of collagen in connective tissues.
p.3
Telomere Structure and Function
What is telomere attrition?
Cell loss associated with aging and cellular senescence.
p.5
Genetic Diseases and Mutations
What is a serious gastrointestinal condition characterized by inflammation and bleeding?
Hemorrhagic gastroenteritis.
p.9
Mitochondrial DNA and Metabolic Dysregulation
What is the significance of the higher mutation rate in mtDNA compared to nuclear DNA?
It can lead to profound metabolic dysregulation and contribute to diseases, including cancer.
p.6
Genetic Diseases and Mutations
What is diabetes mellitus?
A metabolic disorder characterized by high blood sugar levels due to insulin issues.
p.7
Genetic Diseases and Mutations
What is congenital myasthenia gravis?
A genetic disorder affecting neuromuscular transmission.
p.1
Cellular Aging and Senescence
What happens to cells in stable tissues like hepatic or renal parenchyma?
They are mostly in G0 but can proliferate on demand.
p.2
Senescence-Associated Secretory Phenotype (SASP)
What can trigger the SASP response?
DNA damage or epigenomic perturbations.
p.8
Genetic Diseases and Mutations
What is persistent Müllerian duct syndrome?
A condition in XY SRY-positive individuals where female reproductive structures persist.
p.1
Cellular Aging and Senescence
What structural changes occur in senescent cells?
They exhibit increased volume, flattened profiles, and detectable heterochromatin foci.
p.9
Genetic Basis of Aging
How do genes generate multiple different proteins?
Through alternative splicing and other mechanisms.
p.7
Genetic Diseases and Mutations
What is the condition known as hermaphroditism?
A genetic condition where an individual has both male and female reproductive organs.
p.9
Mitochondrial DNA and Metabolic Dysregulation
How many mitochondria can be present in highly active cells like type I skeletal muscle cells?
Up to 10,000 mitochondria.
p.8
Genetic Diseases and Mutations
What is cryptorchidism?
A condition where one or both testicles fail to descend into the scrotum.
p.6
Genetic Diseases and Mutations
What is Cushing’s disease?
A condition caused by excessive cortisol production, often due to a pituitary tumor.
p.8
Genetic Diseases and Mutations
What is the significance of optic nerve hypoplasia?
It refers to underdevelopment of the optic nerve, which can lead to vision impairment.
p.7
Genetic Diseases and Mutations
What is the significance of glycogen storage disease?
It is a group of inherited disorders that affect glycogen metabolism.
p.7
Genetic Diseases and Mutations
What is osteogenesis imperfecta?
A genetic disorder characterized by fragile bones that break easily.
p.4
Chromosome Structure and Function
What is the significance of the phosphate backbone in DNA?
It forms bonds that contribute to the stability of the double helix structure.
p.3
Mitochondrial DNA and Metabolic Dysregulation
What is the significance of mitochondrial dysfunction in aging?
It is likely caused by mitochondrial DNA injury and contributes to impaired regeneration.
p.8
Genetic Basis of Aging
What does XX SRY-negative indicate in males?
It refers to males with a female phenotype due to the absence of the SRY gene.
p.6
Genetic Diseases and Mutations
What is Addison’s disease?
A disorder characterized by insufficient production of hormones by the adrenal glands.
p.6
Genetic Diseases and Mutations
What is the significance of factor VIII deficiency?
It is a genetic disorder that leads to hemophilia A, affecting blood clotting.
p.2
Cellular Aging and Senescence
What allows 'immortal' cells to divide indefinitely?
Active telomerase replenishes telomeric DNA.
p.1
Cellular Aging and Senescence
What is the primary characteristic of terminally differentiated cells?
They are incapable of replication and are short-lived.
p.8
Genetic Diseases and Mutations
What is uterine segmental aplasia?
A condition where part of the uterus is absent or underdeveloped.
p.1
DNA Damage Response (DDR)
What are the consequences of dysfunctional telomeres?
They signal the DDR, leading to cell cycle arrest, senescence, or apoptosis.
p.1
Cellular Aging and Senescence
How does cellular senescence contribute to aging?
It can promote degenerative diseases and contribute to tumor progression.
p.9
Cell Cycle Regulation and Growth Arrest
What is the role of tRNA in protein synthesis?
It transfers the appropriate amino acid from the cytosol to the codon in the mRNA during translation.
p.7
Genetic Diseases and Mutations
What is muscular dystrophy?
A group of genetic diseases characterized by progressive weakness and degeneration of skeletal muscles.
p.4
Chromosome Structure and Function
What is the structure of DNA?
DNA is a double helix with an antiparallel configuration, where purines bind to pyrimidines.
p.1
DNA Damage Response (DDR)
What triggers the DNA damage response (DDR) in aging cells?
Critical shortening of telomeres activates p53, leading to growth arrest or apoptosis.
p.6
Genetic Diseases and Mutations
What is polycystic kidney disease?
A genetic disorder characterized by the growth of numerous cysts in the kidneys.
p.9
Genetic Basis of Aging
What is the role of genes in biological traits?
They determine the structural and functional traits necessary for creating and maintaining cells, tissues, and organs.
p.3
Genetic Diseases and Mutations
What can alterations in genes lead to?
Serious outcomes on cells, tissues, and organ systems, reflected in unique patterns of lesions.
p.5
Genetic Diseases and Mutations
What condition is characterized by the absence of ganglia in the intestines?
Aganglionosis (dysautonomia).
p.1
Genetic Basis of Aging
What is the role of telomeres in cellular aging?
Telomeres limit the number of cell divisions and protect chromosomal ends.
p.8
Genetic Diseases and Mutations
What is cataracts?
A clouding of the lens in the eye that affects vision.
p.4
Chromosome Structure and Function
What is a karyotype?
The unique chromosomal representation of a species, including the number and morphology of its chromosomes.
p.7
Genetic Diseases and Mutations
What is epidermolysis bullosa?
A group of genetic conditions that cause the skin to be very fragile and blister easily.
p.4
Chromosome Structure and Function
What happens to DNA during transcription and translation?
DNA must be uncoiled from its coiled form to become active.
p.3
Senescence-Associated Secretory Phenotype (SASP)
What is the senescence-associated secretory phenotype (SASP)?
A condition where senescent cells secrete pro-inflammatory factors that can affect tissue function.
p.9
Genetic Basis of Aging
What is the average number of genes in the nucleus of an individual cell?
Approximately 20,000 genes.
p.6
Genetic Diseases and Mutations
What is ataxia?
A neurological condition characterized by a lack of voluntary coordination of muscle movements.
p.7
Genetic Diseases and Mutations
What is achondroplasia?
A genetic disorder resulting in dwarfism due to abnormal bone growth.
p.2
Cellular Aging and Senescence
What happens to somatic cells after repeated mitoses?
They lose telomeric DNA and their ability to divide.
p.2
Senescence-Associated Secretory Phenotype (SASP)
What is the senescence-associated secretory phenotype (SASP)?
A phenotype characterized by the secretion of proinflammatory cytokines and other factors by senescent cells.
p.1
Cellular Aging and Senescence
What factors can induce cellular senescence?
DNA damage, epigenomic damage, and certain mitogenic stimuli.
p.9
Cell Cycle Regulation and Growth Arrest
What is the process of synthesizing proteins from genes?
It involves transcription in the nucleus and translation in the cytoplasm.
p.3
Genetic Diseases and Mutations
What causes genetic diseases?
Alterations in the number, structure, and/or function of chromosomes and their genes and gene products.
p.3
Cellular Aging and Senescence
What is replicative senescence?
A reduced ability to produce new cells due to genetic influences.
p.6
Genetic Diseases and Mutations
What is glomerulosclerosis?
A condition characterized by scarring of the glomeruli in the kidneys.
p.8
Genetic Diseases and Mutations
What is choroidal hypoplasia?
Underdevelopment of the choroid layer of the eye.
p.6
Genetic Diseases and Mutations
What is the impact of lysosomal storage diseases?
These are genetic disorders that result in the accumulation of harmful substances in lysosomes.
p.4
Chromosome Structure and Function
What are somatic cells?
All body cells except for germline cells that develop into ova and spermatozoa.
p.4
Chromosome Structure and Function
What is the role of histones in DNA packaging?
Histones bind tightly to negatively charged DNA, forming nucleosomes that condense into chromosomes.
p.3
Cellular Aging and Senescence
What are some environmental influences on cellular aging?
Toxin-induced free radical injury and reduced proteasomal activity.
p.2
Senescence-Associated Secretory Phenotype (SASP)
What role does NF κ B play in the SASP?
It has a positive effect on the SASP.
p.6
Genetic Diseases and Mutations
What is the main characteristic of hereditary nephropathy?
It is a genetic disorder affecting kidney function.
p.5
Genetic Diseases and Mutations
What is the term for the abnormal development of the liver and pancreas due to lysosomal storage disorders?
Lysosomal storage disorders.
p.9
Genetic Basis of Aging
What are constitutively expressed genes?
Genes that are transcribed continually.
p.9
Mitochondrial DNA and Metabolic Dysregulation
What type of DNA is found in mitochondria?
Mitochondrial DNA (mtDNA), which is circular and double-stranded.
p.1
Cellular Aging and Senescence
What is replicative senescence?
It is a permanent or durable cell-cycle arrest in somatic cells.
p.8
Genetic Diseases and Mutations
What is glaucoma?
A group of eye conditions that damage the optic nerve, often due to high eye pressure.
