Which component of the nuclear lamina is produced as a splice-variant product of the lamin A gene?
Lamin C
What is the name for the double-membrane that encompasses and protects the chromatin?
In which quadrant is the spleen located?
Upper left quadrant
This metabolite enters the TCA cycle
Acetyl-CoA
This term describes the maintenance of nearly constant conditions in the body's internal environment
Homeostasis
What kind of carbohydrate is attached to the typical membrane glycoprotein?
Oligosaccharides
What is the negatively charged acidic sugar residue on GM1 ganglioside?
Sialic acid
This specific structure in the male reproductive system is the site where sperm undergo maturation and storage
Epididymis
This term describes the condition where a cell contains a mixed population of both mutated and wild-type mitochondrial DNA
Heteroplasmy
Which laminopathy features progressive nuclear damage that leads to premature aging in young children and death before 15 years of age?
Hutchison-Gilford Progeria Syndrome
In patients with Spinal Muscular Atrophy, a mutation in the SMN protein found within these specific nucleoplasmic structures leads to the defective assembly of snRNPs, which ultimately disrupts the pre-mRNA splicing required for motor neuron survival
Gems
What is the most common basic cause of Hereditary Spherocytosis?
Mutation in spectrin or associated proteins
This clinical condition, also known as aganglionic megacolon, occurs when nerve plexuses fail to develop in the colon, leading to dysfunctional peristalsis
Hirschsprung's disease
Accidental by-products of oxidative phosphorylation, these highly reactive molecules can damage mtDNA because it lacks protective histones
Reactive oxygen species (ROS)
According to Fick’s Law, the net flux of a molecule is inversely proportional to this specific variable
Membrane thickness (or distance)
A researcher is studying a specialized membrane domain that is thicker than the surrounding membrane, less fluid, and rich in cholesterol and glycosphingolipids with long saturated tails. These domains are known to cluster proteins for signaling
Lipid rafts
What important nuclear riboprotein put together in Gems is important in the processing and assembly of the 45S pre-ribosomal RNA?
Within the anterior pituitary gland, these three hormones—FSH, LH, and TSH—along with ACTH, are all secreted by this specific category of cells
Basophils
This term describes the condition where a mutation in a nuclear gene (such as POLG or TWNK) results in a disease phenotype that can also be caused by direct mutations in the mitochondrial DNA
Locus heterogeneity
A 23-year-old man is brought to the emergency department after collapsing during basketball practice. On admission, he is lethargic and appears confused. His coach reports that it was hot in the gym and he was drinking a lot of water during practice. An increase in which of the following is the most likely cause of his symptoms
Intracellular volume
This toxin, extracted from sea sponges, inhibits cell movement by specifically binding free G-actin monomers, thereby preventing them from polymerizing into F-actin filaments
Latrunculin
Which laminopathy centers on skeletal muscle weakness & atrophy, produces notable contractures, also features sudden heart failure and displays fragile nuclei under microscopic examination?
Emery-Dreifuss muscular dystrophy
In order to prevent the life-threatening accumulation of fluid known as hydrocephalus, this clear liquid produced by the choroid plexus must successfully navigate the narrow cerebral aqueduct of the midbrain and enter a space bridged by web-like trabeculae before finally being reabsorbed into the venous system through these specific structural projections
Arachnoid granulations (aka arachnoid villi)
A genetic analysis identifies a mutation in an enzyme responsible for the conversion of pyruvate to Acetyl-CoA. In which compartment of the cell does this conversion predominantly occur?
Mitochondrial matrix
Patients with this rare autosomal recessive lysosomal disorder typically have a defect in the ARSA gene resulting in a deficiency in Arylsulfatase A. This leads to defective degradation of sulfatides resulting in fatty substances (lipids) to build up in cells, particularly in the brain, spinal cord and peripheral nerves. A characteristic change in the color of staining carried out in biological tissues, exhibited by certain dyes when they bind to sulfatides present in these tissues is observed. What is this disease?
Metachromatic Leukodystrophy