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Albinism and Gene therapy
Published on Department of Biochemistry (http://biochem.uonbi.ac.ke)
Albinism and Gene therapy
Submitted by john.kariuki on Thu, 2014-06-19 15:33
Degree Programme: Biochemistry [1]
Student Names: Shake Esther Penninah
Student Registration Number: H12/3325/2009
Albinism is an inherent condition present at birth, characterized by a lack of pigment (melanin) that
normally gives colour to the skin, hair and eyes. Many types of albinism exist, all of which involve
lack of pigment in varying degrees. The condition, which is found in all races, may be accompanied
by eye problems and may lead to skin cancer later in life.
Melanocytes are cells found in organelles called melanosomes that are involved in the biosynthesis
of melanin. Tyrosinase and tyrosinase related protein-1 genes are mostly involved in their expression
to the melanin protein. Any mutation in the above genes will lead to lack of melanin expression in
the eyes, hair and skin and lead to albinism.
Albinism patients suffer from many eye defects like nystagmus, strabismus, foveal hypoplasia and
photophobia. Some are affected by direct sunlight on their skin and this can lead to skin cancer.
Until up to late 2011 no potential treatment or permanent cure existed for albinism, no one device
can serve the needs of all patients in all situations. The conventional interventions for management
of albinism include the use of glasses for young children with low vision, while older children may
require bifocals. Occasionally, telescopic lenses mounted glasses (biopticals) are prescribed for close
up walk and distant vision. Tinted glasses may be used to reduce photophobia but some patients
prefer wearing a cap or visor when outdoors. It also includes the use of sunscreen and sun glasses
for light sensitivity. Gene therapy is a technique used to correct a defective gene. A foreign gene is
inserted by use of viral or nonviral vectors, to correct or replace the mutant gene sequence.
The objective of this dissertation was to review on some of the modern ways for the treatment of
albinism. One of the most recent and ongoing scientific way is by use of gene therapy. For instance,
Adeno-associated virus (AAV)-mediated Tyrosinase gene transfer that can restore melanogenesis
and retinal function in a model of Oculocutaneous albinism type 1 (OCA1).
Further biotechnology researches are going on animal models to try and find a permanent cure this
condition. With time and approval, this genetic engineering method will also be applied to humans.
Gene therapy is a promising treatment option for a number of diseases (including inherited
disorders, some types of cancer and certain viral infections). Gene therapy is currently only being
tested for treatment of diseases that have no other cures. Some of the limitations of gene therapy
include the expression of a gene of interest for short periods of time or possible rejection via an
immune response mounted against the inserted foreign gene. Research is ongoing on the complete
eradication of these limitations, but with the current use of recombinant Adeno-associated virus
(rAAV) which can be expressed for a long period of time and elicit minimal immune response, the
use of anti-inflammatory drugs, antibiotics and immunosuppressive drugs during the surgery, this
problem is slowly becoming extinct.
Year of Study: 3
Academic Year: 2013
Project Year: 2013
Project Status: completed
Source URL: http://biochem.uonbi.ac.ke/node/925
Links:
[1] http://biochem.uonbi.ac.ke/node/866
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Albinism and Gene therapy
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