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BRS BIOCHEM EXAM QUESTIONS AND ANSWERS WITH COMPLETE SOLUTIONS VERIFIED LATEST UPDATE

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BRS BIOCHEM EXAM QUESTIONS AND ANSWERS WITH COMPLETE SOLUTIONS VERIFIED LATEST UPDATE Structure/Function: This disorder affects the enzyme lysyl hydroxylase, results in a defect in collagen synthesis Ehlers-Danlos syndrome [A heterogenous group of disorders of collagen synthesis, marked b...

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  • November 14, 2024
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BRS BIOCHEM EXAM QUESTIONS AND ANSWERS WITH

COMPLETE SOLUTIONS VERIFIED LATEST UPDATE


Structure/Function:



This disorder affects the enzyme lysyl hydroxylase, results in a defect in collagen

synthesis

Ehlers-Danlos syndrome



[A heterogenous group of disorders of collagen synthesis, marked by hyperextensible

joints and skin; inheritance can be autosomal recessive or autosomal dominant, and at

least one type is X-linked recessive]

Structure/Function:



Caused by mutations in the FBN1 gene, leading to the presence of mutant fibrillin

protein in connective tissues

Marfan syndrome



[Inherited as an autosomal dominant syndrome; many patients have cardiovascular

defects, including mitral valve prolapse and cystic medial necrosis, leading to aortic

incompetence and dissecting aortic aneurysms]

,Structure/Function:



A group of disorders involving the α₁ and α₂ chains of collagen usually inherited

as an autosomal dominant trait

Osteogenesis imperfecta



[Sometimes called brittle-bone disease. Younger patients present with multiple

childhood fractures (arousing suspicion of child abuse), and distinctive blue sclera]

Structure/Function:



This autosomal dominant condition is most often a result of mutations in the β-

myosin heavy gene chain, important in generating contractions within the cardiac

myocytes

Familial hypertrophic cardiomyopathy



[This disorder results in a disarray of the contraction apparatus within cardiac muscle

cells, with the development of a thickened muscular wall; it can lead to sudden death

due to arrhythmias in athletes]

Structure/Function:



Most cases are inherited as X-linked dominant mutations in the α₅ chain of

collagen type IV, which is expessed in the affected tissues

,Alport syndrome



[This syndrome is characterized by nephritis, nerve deafness, and cataracts]

Structure/Function:



This disorder results from a frame-shift mutation leading to the complete absence

of a cytoskeletal protein important in maintaining the shape of the contracting

myocyte

Duchenne muscular dystrophy (DMD)



[This debilitating disorder leads to clumsiness, followed by weakness of the girdle

muscles; confinement to a wheelchair occurs by the teens and death due to respiratory

failure by the early 20s]

Structure/Function:



This disorder results from a quantitative deficiency of the cytoskeletal protein

dystrophin

Becker muscular dystrophy (BMD)



[This disorder is much less severe than Duchenne muscular dystrophy, with a later inset

and nearly normal life span]

Structure/Function:

, Deficiency of the cytoskeletal protein spectrin, resulting in cells that are less

deformable and more vulnerable to destruction in the spleen

Hereditary spherocytosis



[This autosomal disorder is the most common inherited cause of hemolytic anemia in

whites and results in spherical RBCs]

Structure/Function:



This autosomal recessive condition results from a defect in microtuble

polymerization, with defects in neutrophil chemotaxis and phagolysosome

formation

Chediak-Higashi syndrome



[Defects in the formation of functional phagolysosomes from the union of lysosomes

with phagosomes (containing opsonized pyogenic bacteria) results in recurrent

infections by such organisms]

Structure/Function:



This family of transcription factors contains the supersecondary structural helix-

turn-helix motif and is important in pattern formation during embryonic

development

Homeobox Proteins

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