DISEASE/DRUGS PT.1
This condition, often referred to as "floppy baby syndrome," is characterized by constipation, loss of head control, and flaccid paralysis resulting from the ingestion of toxins that block acetylcholine release at the neuromuscular junction
Botulism
This genetic condition results in high levels of plasma LDL and premature atherosclerosis, often manifesting physically as xanthomas, xanthelasmas, and corneal arcus
Familial Hypercholesterolemia
Unlike I-cell disease, this milder condition involves the same gene but different alleles, allowing for residual enzymatic function and survival into adulthood
Pseudo-Hurler Polydystrophy (Mucolipidosis III)
This specific mucopolysaccharidosis is the only one in its class that is X-linked rather than autosomal recessive, and it is clinically distinguished from Hurler syndrome by the absence of corneal clouding
Hunter syndrome (MPS II)
The most severe form of MPS, known as MPS IH, is caused by a deficiency of α-L-iduronidase, leading to the accumulation of dermatan and heparan sulphate
Hurler syndrome
This specific synaptic vesicle protein is the primary target for both botulinum and tetanus toxins; once cleaved, the vesicle cannot fuse with the axonal membrane
Synaptobrevin (v-SNARE)
This autosomal recessive disorder involves a defect in β-Hexosaminidase A, resulting in an inability to remove N-acetylneuraminic acid (NANA) from the GM2 ganglioside
Tay-Sachs disease
These two drugs are utilized in the treatment of cancers with a high mitotic index because they bind to tubulin subunits and prevent polymerization
DAILY DOUBLE!!!!
Vincristine & Vinblastine
This nucleoside analogue used in HIV treatment competes with dTTP for viral reverse transcriptase but accidentally inhibits DNA polymerase γ (POLG), leading to mtDNA depletion and acquired myopathy
AZT (Zidovudine)
This specific pathology involves a mutation in Keratin 9, an intermediate filament protein that is expressed exclusively in the palms of the hands and the soles of the feet
Epidermolytic Palmoplantar Keratoderma
Mutations in the gene encoding this specific nuclear intermediate filament can result in a wide array of serious "laminopathies," including Hutchinson-Gilford Progeria and Emery-Dreifuss muscular dystrophy
Lamin A
While one is a fungal derivative and the other is a toxin extracted from "toadstool mushrooms," both of these substances interfere with cellular movement by specifically inhibiting the depolymerization of F-actin filaments
DAILY DOUBLE!!!!
Cytochalasins & Phalloidin
This congenital syndrome, part of a spectrum of PEX gene mutations, results in "empty" peroxisomes and a total failure to import peroxisomal enzymes
Zellweger syndrome
This bacterial toxin causes debilitating diarrhea by binding specifically to GM1 ganglioside receptors located on the surface of intestinal epithelial cells
This autosomal recessive condition is characterized by immotile sperm and cilia, often resulting in infertility and recurrent respiratory infections such as bronchitis and sinusitis. It is caused by disrupted dynein arms within the axoneme
Primary Ciliary Dyskinesia (PCD)
This cardiac disease is associated with defects in the intermediate filaments that normally form a protective network around myofibrils at the Z disk to help the cell withstand mechanical stress
Desmin-related myofibrillar myopathy
Unique among mitochondrial diseases because it can be either homoplasmic or heteroplasmic, this condition results in subacute, painless, bilateral central visual failure
Leber's Hereditary Optic Neuropathy (LHON)
MELAS is caused by a point mutation in this mitochondrial gene
tRNA Leucine
Hereditary Spherocytosis is an autosomal dominant condition that stems from mutations in these skeletal membrane proteins
DAILY DOUBLE!!!!!
Spectrin & Ankyrin
Unlike many other storage diseases, Chédiak-Higashi syndrome is classified as a defect lysosomal:
Trafficking
This disease while not a direct genetic mutation of a membrane protein, is caused by elevated cholesterol synthesis, which leads to an excess cholesterol in the RBC plasma membrane
Acanthocytosis (aka Spur cell anemia)
While both of these sporadic conditions are caused by giant mtDNA deletions, this pediatric disease is distinguished by bone marrow involvement (pancytopenia) and exocrine pancreatic failure with deletions present in all tissues; in contrast, its late-onset counterpart involves deletions found in muscle but not in blood and is clinically characterized by progressive external ophthalmoplegia, ataxia, and heart block. Notably, children who survive the more severe pediatric form often undergo a "phenotype switch" to the late-onset syndrome
DAILY DOUBLE!!!
Pearson syndrome and Kearns-Sayre syndrome (KSS)
These intraneuronal structures form during the pathogenesis of Alzheimer’s disease when the microtubule-associated protein Tau becomes hyperphosphorylated, leading to the depolymerization of microtubules and the subsequent disruption of axonal transport
Neurofibrillary Tangles (NFTs)
In patients with Zellweger Syndrome, the severe failure to import necessary enzymes into the organelle matrix often occurs because mutant peroxins are unable to recognize this specific C-terminal tripeptide sequence
SKL tag
Tay-sachs disease is caused by a deficiency or total absence of the enzyme β-Hexosaminidase A. This enzyme is normally responsible for the degradation of sphingolipids within the lysosome. Specifically, in the sphingolipid degradation pathway, β-Hexosaminidase A is required to remove this particular sugar from the GM2 Ganglioside
N-acetylneuraminic acid (NANA)