MUTATION

Mutation is a process that changes a DNA

sequence, and they are a main cause of
diversity among organisms.
People commonly use the terms "mutant" and mutation" to
describe something undesirable or broken. But mutation is not
always bad. Most DNA changes fall in the large areas of the
genome that sit between genes, and usually they have no effect.
The whole human family is one species
with the same genes. Mutation creates
slightly different versions of the same
genes, called alleles. These small
differences in DNA sequence make every
individual unique.
Genetic variation is useful because it helps
populations change over time. Variations that
help an organism survive and reproduce are
passed on to the next generation. Variations
that hinder survival and reproduction are
eliminated from the population.
No two people are alike, due to the subtly
different ways our genomes are expressed.
But sometimes these biological differences
lead to genetic mutations that are extremely
rare, and sometimes debilitating. Historically,
many people suffering from these mutations
were labeled monsters or freaks — but today,
we know they are simply part of the broad
spectrum of genetic variations in our species.
Here are 2 of the most unusual genetic
mutations we've identified in humans.
1. Progeria The classic form of the disease,
called Hutchinson-Gilford
Progeria, causes accelerated aging
The disease is caused by a
mutation in the LMNA gene, a
protein that provides support to
the cell nucleus. Other symptoms
of progeria include rigid (sclerotic)
skin, full body baldness (alopecia),
bone abnormalities, growth
impairment, and a characteristic
“sculptured” nasal tip.
2. Uner Tan Syndrome UTS is a syndrome that was proposed
by the Turkish evolutionary biologist
Üner Tan after studying five members
of the Ulaş family in rural Turkey.
”). The family was featured in a 2006
BBC2 documentary called, “
The Family That Walks On All Fours.
Tan describes it like this:
The genetic nature of this syndrome
suggests a backward stage in human
evolution, which is most probably
caused by a genetic mutation,
rendering, in turn, the transition from
quadrupedality to bipedality.
DNA Repair

Most of the time, mutation is reversed. DNA

repair machines are constantly at work in
our cells, fixing mismatched nucleotides and
splicing broken DNA strands back together.
Yet some DNA changes remain. If a cell
accumulates too many changes—if its DNA
is so damaged that repair machinery cannot
fix it—it either stops dividing or it self-
destructs. If any of these processes go
wrong, the cell could become cancerous.