Biochemistry III

Subjects: Neuroscience, Organelles, Stem cells Parkinson’s disease (PD) is one of the most common neurodegenerative disorders, which is characterized by the loss of dopaminergic neurons in the substantia nigra pars compacta (Poewe et al., 2017).

Nucleosomes are the key structures in eukaryotic genomes that package DNA and regulate DNA accessibility, influencing DNA-templated processes like transcription, replication, and repair (1). ATP-dependent chromatin remodeling enzymes are essential for determining nucleosome organization and positioning (2,3). These enzymes consist of catalytic subunits grouped into four families. Among the families, the ISWI chromatin remodelers include Snf2H and Snf2L proteins.

The Hermansky Pudlak syndromes (HPS) constitute a family of disorders characterized by oculocutaneous albinism and bleeding diathesis, often associated with lethal lung fibrosis. HPS results from mutations in genes of membrane trafficking complexes that facilitate delivery of cargo to lysosome-related organelles. Among the affected lysosome-related organelles are lamellar bodies (LB) within alveolar type 2 cells (AT2) in which surfactant components are assembled, modified, and stored.