On being a Doctor... "and describe a disease not previously reported, Lesch--Nyhan disease"

Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...

Pathophysiology investigates how biological mechanisms—typically starting at the cellular level—disrupt normal bodily functions. It bridges anatomy and physiology to explain the progression of disease. With this foundation, it is important to understand the following key terms used to describe disease processes: Diagnosis:The process of identifying a disease using clinical evaluation, including signs (objective evidence like rashes), symptoms (subjective experiences like pain), laboratory test...

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...

Agouti: A Lethal Allele
Lucien Cuénot discovered lethal alleles in 1905 while studying the inheritance of coat color in mice. The agouti gene is responsible for the color of the coat in mice. This gene codes for an agouti-signaling protein, which is responsible for melanin distribution in mammals. The wild-type allele gives rise to gray-brown coat color in mice, while the mutant allele gives rise to yellow coat color. In addition to coat color, the agouti gene is associated with the yellow...

This lesson explores key terms that describe how diseases progress, their outcomes, and their distribution in populations.Diagnostic tests identify diseases and monitor treatment. These include blood and urine tests, biopsies, imaging (X-ray, MRI), and detection of infectious agents.Remission is a reduction or disappearance of symptoms.Exacerbation refers to the worsening of symptoms, such as increased wheezing during an asthma attack.A precipitating factor triggers an acute episode, while a...

Parkinson’s disease is a chronic, progressive neurodegenerative disorder that primarily affects movement. It is characterized by motor symptoms such as resting tremors, muscle rigidity, bradykinesia (slowness of movement), and postural instability. Patients may notice hand tremors at rest, stiffness during movement, or a shuffling gait. In addition to motor features, non-motor symptoms include sleep disturbances, mood and behavioral changes, constipation, and cognitive impairment, all of which...