Nice to know component of cell organelles & cell

membrane

Endoplasmic reticulum (ER)-shaping proteins play a role

in maintaining functional contacts between the ER and
mitochondria and suggest that the shape of ER.

Mutations in ER shaping proteins –cause hereditary spastic

paraplegia effecting neuron responsible for
Limb movement ( unable to make lipids (myelin )

scaffolding proteins- that shape the ER- absent

so the ER can’t make three-way junctions with each other
therfeore,
ER cannot form lipids important for the myelin

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 protein scaffolding of the nucleoplasm - mainly consisits intermediate filaments
Progeria
➢ The inner part of the nuclear envelope is covered by the nuclear
lamina . The lamina gives support to the nuclear envelope and
maintains the nucleus shape.
➢ Mutations in genes coding for lamina protein
causes week nuclear envelop , reduction in
functions such as cellular proliferation
,ability to repair tissue.
➢ Progeria, an inherited syndrome that produces
symptoms of premature aging (including loss of
subcutaneous fat, reduced muscle
development and bone density).

Achondrogenesis:
The Golgi apparatus is supported by cytoplasmic microtubules.
Deficiency of Golgi microtubule proteins results in a type of
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achondrogenesis, a rare skeletal disorder characterized by a short
trunk, small limbs, and a narrow chest.
Zellweger syndrome
Diseases of peroxisomal biogenesis include Zellweger
syndrome, mutations in gene instead
results in a failure to
gets scattered in cytosol
transport peroxisomal proteins ( made by ribosomes)into
peroxisomes, leading to clinical symptoms such as
hypotonia, seizure, and hepatomegaly, Neurological
symptoms .
caused to defect in the membrane of erythrocyte

Hereditary spherocytosis increases the permeability for water &

Na
mutations in the genes encoding spectrin in the red
blood cell membrane,
leading to excessive hemolysis.

Duchenne muscular dystrophy (DMD)

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mutation in the gene for dystrophin
Cystic fibrosis: results from the inability of cells to export a
mutant form of the cystic fibrosis transmembrane
conductance regulator protein (CFTR) to the cell surface,
where it normally functions as a chloride channel in the

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respiratory system and pancreas.
Code for phenylalanine at 508 position is deleted causing a
faulty misfolded protein to be made which cannot function as
normal CFTR protein which is required to pump chloride ions
outside the cells which osmotically draws water to thin out
secretions
• Increase production of salty sweat, digestive fluids, and
mucus.
• secretions which are usually thin instead become thick
and sticky,
• this results in repeated lung infection, indigestion.
Misfolded α1-antitrypsin :
α1-antitrypsin ( made in liver and secreted to blood ) is
mutated and misfolded in the endoplasmic reticulum. This
predisposes affected individuals to the lung disease

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degrades elastin
emphysema. alveolar sacs get damaged & filled with abnormal large gaps fibers in the lung
tissue
Normally, α1-antitrypsin protects tissues by inhibiting
extracellular proteases such as elastase, which is produced
by neutrophils. Neutrophils are the most abundant type of granulocytes
and make up 40% to 70% of all white blood cells in humans

The resulting deficiency in α1-antitrypsin circulating in the

blood allows elastase to destroy lung tissue, leading to
emphysema.