Retinitis
pigmentosa as a genetic disease
The following general discussion
of genetics is not intended to replace proper genetic counseling by
a medical professional rather it is an overview of the mechanisms involved
in autosomal and sex linked diseases, specifically retinitis pigmentosa.
The starting point of any
discussion on genetics is the gene. Genes are responsible for determining
the form and function of every living organism. It is this inherited
unit that is passed from parent to offspring.
Well - this isn't entirely
correct. Rather it is chromosomes that are passed from one generation
to the next while genes happen to be located on these chromosomes. Genes
are composed of DNA (deoxyribonucleic acid) - the basic building block
of living things. DNA looks somewhat like a long bead like strand that
exists in pairs.
The human genome consists
of 23 chromosome pairs. Each chromosome in turn contains unique DNA
that when damaged through mutations or errors incorporated into the
strand results in the improper functioning of cells. This may lead to
the death of tissues, organs or even the body . However, because there
are 2 copies of each chromosome and therefore each gene - an altered
gene does not necessarily mean that this mutant gene will be the one
expressed by the individual as we will see shortly.
What this means to Retinitis
pigmentosa
There are four basic types
of inheritance in retinitis pigmentosa: autosomal recessive, autosomal
dominant, sex linked and digenic. But first an understanding of how
chromosomes are passed from parent to offspring.
Back to the 46 chromosomes
(23 chromosome pairs) - 23 of which come from dad (sperm) and 23 of
which come from mom (egg) during fertilization. 22 of these 23 chromosomes
are referred to as autosomal chromosomes and are identical in both males
and females. The only differences between the two chromosomes of an
autosomal chromosome pair are variances in the DNA that is responsible
for character traits such as eye or hair color.
The 23rd chromosome pair
differs from the autosomes in that it marks the physical and metabolical
variances between males and females. These chromosomes are designated
X and Y and determine the sex of a baby, a fact that gives them their
name - sex chromosomes.
So, returning to fertilization,
when mom provides 22 autosomal chromosomes (not pairs) and an X chromosome
and dad provides 22 chromosomes (not pairs) and either an X or Y chromosome,
there is a total complement of 23 chromosome pairs. A sex chromosome
combination of XX results in a girl while an XY combination results
in a boy. This will become important in our discussion of sex linked
retinitis pigmentosa.
Every child that
is born receives 23 chromosomes (not pairs) from mom (maternal chromosomes)
and 23 chromosomes (not pairs) from dad (paternal chromosomes). This
means that each chromosome of a chromosome pair has a 50 % chance of
being passed onto a child in the next generation. Any genes located
on a given chromosome, whether normal or altered, become part of a child's
genome. The genes from one parent will interact with the maternal or
paternal genes from the child's other parent according to the set of
instructions set out by the DNA encoded within them.
With retinitis pigmentosa, which already has more than 7 genes identified
with it, scientists have determined four hereditary patterns: autosomal
recessive, autosomal
dominant, sex
linked and digenic
degenerative retinal disease.
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Autosomal recessive/autosomal dominant RP
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