Rare Peroxisomal Biogenesis Essay

Rare peroxisomal biogenesis disorder RCDP1, is a genetic disease diagnosed in infants and inherited in an autosomal recessive pattern. The disease is caused by a monogenic nonsense or missense mutation in the PEX7 gene of humans, encoding the Pex7p import receptor protein responsible for transporting PTS2 proteins and enzymes from the cytosol to the matrix of the peroxisome. Affected individuals are significantly impaired and do not live longer than a decade, displaying severe learning, growth, development, and skeletal problems including stippling patterns in atypically shortened proximal limb bones. Normally, cytosolically translated proteins are localized to the organelle via PTS1 and PTS2 signals, but in affected individuals the PTS2 receptor is nonfunctional or weak in protein affinity and does not bring these proteins into the peroxisome. Integral peroxisome enzymes involved in catalytic steps of …show more content…
Peroxisomes are very dynamic organelles, growing as they take in proteins and frequently dividing. It does not perform co-translational translocation of proteins similar to the mitochondria and chloroplast, but unlike the mitochondria and chloroplast it does not contain DNA and all proteins are nucleus derived. The metabolic function entails the oxidation of the cell’s fatty acids via two mechanisms, alpha and beta-oxidation. Beta-oxidation pertains to longer fatty acid chain metabolism that produces acetyl groups and hydrogen peroxide as a byproduct (Harvey Lodish et al. 2004). Peroxisomal matrix enzymes such as alkyl-glycerone phosphate synthase (AGPS) take part in catalyzing the production of the plasmalogen lipids which are found in cell membranes throughout human tissue types likely to serve as protection to cells from oxidative harm. Alpha-oxidation is carried out on branched fatty acids, mainly phytanic acid (Braverman et al.