What are the two types of chromosomes in animals?
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Autosomes and sex chromosomes.
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What are the two types of chromosomes in animals?
Autosomes and sex chromosomes.
What must happen for a gene to be active?
The condensed DNA must revert to long strands for transcription into RNA.
What is the role of p53 in cellular senescence?
It is involved in the DNA damage response and can induce growth arrest.
How can SASP factors affect cell proliferation?
Some promote proliferation while others inhibit it, depending on the context.
What causes immune-complex glomerulonephritis?
It is caused by the accumulation of immune complexes in the glomeruli.
What is a common congenital defect affecting the heart?
Atrial septal defects.
What is the impact of cystic ovarian disease?
It affects ovarian function and can lead to reproductive issues.
What is the primary function of mitochondria?
They are the cellular site of aerobic energy production.
What is the function of telomerase in certain cells?
Telomerase replenishes telomeres, allowing for continued cell division.
What are alleles?
Different forms of a gene that can alter the gene product.
What is progressive retinal atrophy?
A genetic disorder that leads to the degeneration of the retina, causing vision loss.
What is the role of collagen dysplasias?
They are disorders affecting the structure and function of collagen in connective tissues.
What is telomere attrition?
Cell loss associated with aging and cellular senescence.
What is a serious gastrointestinal condition characterized by inflammation and bleeding?
Hemorrhagic gastroenteritis.
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.
What is diabetes mellitus?
A metabolic disorder characterized by high blood sugar levels due to insulin issues.
What is congenital myasthenia gravis?
A genetic disorder affecting neuromuscular transmission.
What is a common marker of senescence?
p16 INK4a.
What happens to cells in stable tissues like hepatic or renal parenchyma?
They are mostly in G0 but can proliferate on demand.
What can trigger the SASP response?
DNA damage or epigenomic perturbations.
What is persistent Müllerian duct syndrome?
A condition in XY SRY-positive individuals where female reproductive structures persist.
What structural changes occur in senescent cells?
They exhibit increased volume, flattened profiles, and detectable heterochromatin foci.
How do genes generate multiple different proteins?
Through alternative splicing and other mechanisms.
What is the condition known as hermaphroditism?
A genetic condition where an individual has both male and female reproductive organs.
How many mitochondria can be present in highly active cells like type I skeletal muscle cells?
Up to 10,000 mitochondria.
What is cryptorchidism?
A condition where one or both testicles fail to descend into the scrotum.
What is Cushing’s disease?
A condition caused by excessive cortisol production, often due to a pituitary tumor.
What is the significance of optic nerve hypoplasia?
It refers to underdevelopment of the optic nerve, which can lead to vision impairment.
What is the significance of glycogen storage disease?
It is a group of inherited disorders that affect glycogen metabolism.
What is osteogenesis imperfecta?
A genetic disorder characterized by fragile bones that break easily.
What is the significance of the phosphate backbone in DNA?
It forms bonds that contribute to the stability of the double helix structure.
What is the significance of mitochondrial dysfunction in aging?
It is likely caused by mitochondrial DNA injury and contributes to impaired regeneration.
What does XX SRY-negative indicate in males?
It refers to males with a female phenotype due to the absence of the SRY gene.
What is Addison’s disease?
A disorder characterized by insufficient production of hormones by the adrenal glands.
What is the significance of factor VIII deficiency?
It is a genetic disorder that leads to hemophilia A, affecting blood clotting.
What allows 'immortal' cells to divide indefinitely?
Active telomerase replenishes telomeric DNA.
What is the primary characteristic of terminally differentiated cells?
They are incapable of replication and are short-lived.
What is uterine segmental aplasia?
A condition where part of the uterus is absent or underdeveloped.
What are the consequences of dysfunctional telomeres?
They signal the DDR, leading to cell cycle arrest, senescence, or apoptosis.
How does cellular senescence contribute to aging?
It can promote degenerative diseases and contribute to tumor progression.
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.
What is muscular dystrophy?
A group of genetic diseases characterized by progressive weakness and degeneration of skeletal muscles.
How many chromosomes do humans have?
46 chromosomes.
What is the structure of DNA?
DNA is a double helix with an antiparallel configuration, where purines bind to pyrimidines.
Which condition involves the abnormal accumulation of amyloid protein?
Amyloidosis.
What triggers the DNA damage response (DDR) in aging cells?
Critical shortening of telomeres activates p53, leading to growth arrest or apoptosis.
What is polycystic kidney disease?
A genetic disorder characterized by the growth of numerous cysts in the kidneys.
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.
What can alterations in genes lead to?
Serious outcomes on cells, tissues, and organ systems, reflected in unique patterns of lesions.
What condition is characterized by the absence of ganglia in the intestines?
Aganglionosis (dysautonomia).
What is the role of telomeres in cellular aging?
Telomeres limit the number of cell divisions and protect chromosomal ends.
Which syndrome is associated with renal failure and deafness?
Alport syndrome.
What is cataracts?
A clouding of the lens in the eye that affects vision.
What is a karyotype?
The unique chromosomal representation of a species, including the number and morphology of its chromosomes.
What is epidermolysis bullosa?
A group of genetic conditions that cause the skin to be very fragile and blister easily.
What happens to DNA during transcription and translation?
DNA must be uncoiled from its coiled form to become active.
What is the senescence-associated secretory phenotype (SASP)?
A condition where senescent cells secrete pro-inflammatory factors that can affect tissue function.
How many genes does the mitochondrial genome encode?
37 genes.
What is the average number of genes in the nucleus of an individual cell?
Approximately 20,000 genes.
What is ataxia?
A neurological condition characterized by a lack of voluntary coordination of muscle movements.
What is achondroplasia?
A genetic disorder resulting in dwarfism due to abnormal bone growth.
What happens to somatic cells after repeated mitoses?
They lose telomeric DNA and their ability to divide.
What is the senescence-associated secretory phenotype (SASP)?
A phenotype characterized by the secretion of proinflammatory cytokines and other factors by senescent cells.
What is the term for the condition where the esophagus is unable to properly open?
Esophageal achalasia.
What is the relationship between p53 and the SASP?
p53 restrains the SASP.
What factors can induce cellular senescence?
DNA damage, epigenomic damage, and certain mitogenic stimuli.
What is the process of synthesizing proteins from genes?
It involves transcription in the nucleus and translation in the cytoplasm.
What causes genetic diseases?
Alterations in the number, structure, and/or function of chromosomes and their genes and gene products.
What is replicative senescence?
A reduced ability to produce new cells due to genetic influences.
What enzyme is overexpressed in senescent cells?
β-galactosidase.
What is glomerulosclerosis?
A condition characterized by scarring of the glomeruli in the kidneys.
What condition is characterized by the presence of calculi in the urinary system?
Cystinuria.
What is choroidal hypoplasia?
Underdevelopment of the choroid layer of the eye.
What is the impact of lysosomal storage diseases?
These are genetic disorders that result in the accumulation of harmful substances in lysosomes.
What are somatic cells?
All body cells except for germline cells that develop into ova and spermatozoa.
What is the role of histones in DNA packaging?
Histones bind tightly to negatively charged DNA, forming nucleosomes that condense into chromosomes.
What are some environmental influences on cellular aging?
Toxin-induced free radical injury and reduced proteasomal activity.
What role does NF κ B play in the SASP?
It has a positive effect on the SASP.
What is the main characteristic of hereditary nephropathy?
It is a genetic disorder affecting kidney function.
What is the term for the abnormal development of the liver and pancreas due to lysosomal storage disorders?
Lysosomal storage disorders.
What are constitutively expressed genes?
Genes that are transcribed continually.
What is an example of a dental abnormality mentioned in the text?
Cleft lip.
What is a common gastrointestinal issue that can lead to severe swelling?
Anasarca.
What type of DNA is found in mitochondria?
Mitochondrial DNA (mtDNA), which is circular and double-stranded.
What is replicative senescence?
It is a permanent or durable cell-cycle arrest in somatic cells.
What is glaucoma?
A group of eye conditions that damage the optic nerve, often due to high eye pressure.
