Organelles and Functional Compartments Flashcards
What are ciliopathies?
Developmental disorders associated with issues of the cilia.
What is one example of ciliopathy?
Oral-facial-digital syndrome
List two features of oral-facial-digital syndrome.
Craniofacial abnormalities, incomplete bilateral syndactyly
What are some processes carried out in the cytoplasm?
Glycolysis, gluconeogenesis, biosynthesis of sugars, fatty acids and amino acids, RNA modification, protein synthesis.
What are the major functions of the mitochondria?
Cellular metabolism (Krebs cycle), cell differentiation, apoptosis, some of the cell cycle and growth.
True or false- mitochondrial disorders are usually not compatible with life?
True
What disorder arises from mutations in the Complex I NADH dehydrogenase subunit 4 of the mitochondrial respiratory chain?
Leber hereditary optic neuropathy (LHON)
What are the functions of the smooth endoplasmic reticulum?
Carbohydrate metabolism, ion regulation, synthesis and metabolism of steroids and lipids, some drug detoxification.
What are some disorders that are due to dysfunction of the endoplasmic reticulum?
Snoring, cerebral ischaemia, sleep apnoea, Alzheimer’s, MC, amyotrophic lateral sclerosis, prion disease, familial encephalopathy.
What is the function of lysosome?
Digest self and other molecules.
What is the function of peroxisomes?
Break down molecules, such as long chain fatty acids.
What is the function of the nucleolus?
Site of ribosome assembly
What are the four major parts of the nucleus?
Nucleoplasm, nuclear envelope, nuclear pores, nucleolus.
What are the four stages of potency?
Totipotent, pluripotent, multipotent, nullipotent
What are nullipotent cells?
Terminally differentiated cells.
