Diseases pt.1
This X-linked or autosomal dominant condition involves mutations in Emerin or Lamin A/C, leading to a fragile nuclear envelope and the clinical triad of early contractures, slow-progressive muscle wasting, and cardiac conduction defects
Emery-Dreifuss Muscular Dystrophy
This specific physical finding in mitochondrial diseases like KSS and MERRF is identified using muscle biopsy staining
Ragged Red Fibers
In Cystic Fibrosis, this axillary diagnostic test is used to identify the CFTR mutation
Sweat Test
This condition is caused by a mutation in Fibrillin-1, leading to weakened elastic fibers, arachnodactyly (long fingers), and a high risk of aortic dissection
Marfan syndrome
This autosomal dominant condition is caused by a defect in spectrin, ankyrin, or protein 4.1, resulting in spherical RBCs that are destroyed by the spleen
Hereditary Spherocytosis
A mutation in the SMN protein within the nucleus "gems" leads to this condition, the most common genetically related cause of neonatal death
Spinal Muscular Atrophy (SMA)
This "floppy baby syndrome" is caused by a toxin that cleaves synaptobrevin, inhibiting the release of the stimulatory neurotransmitter Acetylcholine
Botulism
This triad of bronchiectasis, situs inversus, and chronic sinusitis is characteristic of a specific form of Primary Ciliary Dyskinesia
Kartagener syndrome
This condition, often called "Fragile Bone Disease," is caused by a defect in Type I Collagen and is characterized by blue sclera and multiple fractures
Osteogenesis Imperfecta
This inherited defect in Type IV Collagen specifically affects the glomerulus of the kidney and is frequently associated with deafness and hematuria
Alport syndrome
Characterized by "lock jaw" (trismus) and spastic paralysis, this condition results from a toxin cleaving synaptobrevin in vesicles carrying GABA and glycine
Tetanus
This disease is caused by a transport defect where the absence of an M6P protein tag causes lysosomal enzymes to be secreted extracellularly instead of sent to the lysosomes
I-Cell Disease (Mucolipidosis II)
This is the most common form of dwarfism; it is caused by a constitutive mutation in the FGFR3 receptor which inhibits cartilage growth and Type II collagen production
Achondroplasia
This autoimmune disease involves antibodies attacking the alpha-3 chain of Type IV collagen, causing both pulmonary hemorrhage (hemoptysis) and progressive renal failure
Goodpasture syndrome
This specific type of collagen is mutated in Alport Syndrome, resulting in a thinning and splitting of the glomerular basement membrane in the kidney
Type IV collagen
This syndrome, characterized by "stretchy skin" and hypermobile joints, is most commonly caused by a defect in Type V or Type III Collagen
Ehlers-Danlos Syndrome (EDS)
his mitochondrial disorder, characterized by bilateral ptosis and exercise intolerance, is caused by mutations in the POLG or TWINKLE genes
Progressive External Ophthalmoplegia (PEO)
This nuclear structure, which contains the SMN protein, is the site of snRNP biogenesis; its disruption leads to Spinal Muscular Atrophy
Nuclear Gems (or Gemini of Cajal bodies)
In Scurvy, the lack of Vitamin C prevents the hydroxylation of these two amino acids, which is essential for the stable triple-helix formation of collagen
DAILY DOUBLE!!!!
These specific proteins are responsible for the ATP-dependent transport of enzymes into a peroxisome; a mutation in their encoding PEX genes causes Zellweger Syndrome
Peroxins
This intermediate filament protein forms a scaffold under the nuclear envelope; a mutation in its gene can cause either Progeria or a form of Emery-Dreifuss Muscular Dystrophy
Lamin A/C
In this specific mitochondrial disorder, a mutation in the MT-TK gene (encoding tRNA Lysine) leads to myoclonus, seizures, and the presence of "Ragged Red Fibers" on a muscle biopsy
MERFF (Myoclonic Epilepsy with Ragged Red Fibers)
This specific type of Epidermolysis Bullosa is caused by mutations in Keratin 5 or 14, leading to cytolysis of the basal cell layer
EB Simplex
In Kartagener Syndrome, the lack of this specific ciliary component prevents the normal "sliding" of microtubule doublets, leading to complete immotility
Dynein arm
In Dystrophic Epidermolysis Bullosa, the "butterfly children" suffer from severe blistering because they lack this specific type of collagen, which normally forms the anchoring fibrils that secure the epidermis to the dermis
Type VII Collagen