KENDRIYA VIDYALAYA NO.

1 AFS PATHANKOT

BIOLOGY
INVESTIGATORY
PROJECT

PROGERIA
Submitted by : Sufia Hassan
Class 12th B

2014-15
C Certificate
This is to certify that the Project entitled progeria is a bonafide

work done by sufia hassan of class XII-B Session 2014-15

in partial fulfillment of CBSEs AISSCE Examination

2015 and has been carried out under the direct supervision and

guidance of Mrs. C Thapa . This report or a similar report on

the topic has not been submitted for any other examination and

does not form a part of any other course undergone by the

candidate.

Signature of Student Signature of Teacher

Name: .. Name: ...

Roll No.: Designation: PGT
(Biology)
 Acknowledgment:

I place my sincere thanks to my biology

teacher Mrs. C. Thapa for her guidance and
advices to complete my work successfully. I
also thank our principal Mr. J.D.Guru for
providing me all the facilities to finish the
project on time. I also take this opportunity to
place on record my deep gratitude to lord
almighty for the countless blessings showered
on me while doing the work and to complete
it. Last but not least I thank my parents for
their encouragement and support in my
humble venture.
Contents :

Introduction
Symptoms
Case study 1
Case study 2
treatment
Introduction :

Progeria, also known as Hutchinson Gilford Progeria

Syndrome, is an extremely rare genetic disease of
childhood characterized by dramatic, premature aging.
Progeria derives its name from the greek word "Gera",
which means "Old age". This rare genetic mutation was
first observed by Dr. Jonathan Hutchinson in 1886 and
by Dr. Hastings Gilford in 1904
What Causes Progeria?
Progeria is an autosomal, dominant disorder and and it
occurs because of a point mutation on a single gene. This
gene is known as LAMIN A (LMNA). Nearly all cases of
Progeria are found to be caused by the substitution or
replacement of one base pair of the aproximate 25,000
base pairs that make up the LMNA gene. Hutchinson Gilford
Progeria Syndrome (HGPS) is
caused by a mutation in the gene called LMNA.
The LMNA gene produces the lamin A protein which is what
holds the nucleus of a cell together. The abnormal lamin A
protein that causes Progeria is called
progerin. Progerin makes the nucleus unstable. That
instability leads to the process of premature aging and
disease in Progeria.

The chances of having a child with Progeria are 1 in 4 8

million. Doctors diagnose progeria based mostly on physical
features such as failure to grow and hairloss, but will also
have blood and genetic tests done for LMNA mutations to
confirm the diagnosis of Progeria. Progeria is a fatal disease
and most people with this disorder die in their teen years
although it isn't uncommon that someone with progeria will
live to their early twenties. Death is usually due to heart
attack or stroke. Presently there is no cure for Progeria.

Who Can Progeria Affect and Where Does It occur the

most?

The chances of having a child with Progeria are 1 in 4 8

million. Progeria can affect anybody. It is completely
random so it can affect any
gender, any race, and any part of the world. There does not
seem to be any specific group of people that this disorder
can affect.
-The cause of Progeria will not show up in a karyotype, but we
know that it is a point mutation on chromosome number 1.

- A pedigree for progeria would vary from family to family and

because people who get progeria die long before they have
children, pedigrees end in dead ends.

This is a map of children with progeria found

around the world. Because the occurence of
Progeria is completely random and can happen to
anybody anywhere, there are no specific areas
where this disorder occurs the most. This map shows
the locations of people with progeria and it seems
that it is more common in certain areas, but in
reality, it can occur in all areas equally.
Sup
port symptoms :
Failure to grow within the first year of life.
Shrunken, narrow or wrinkled face
Loss of head/body hair.
Short stature.
Large head.
Open soft spot.
Small jaw.
Dry and thin skin
Delayed or absence of growth of teeth
Progeria does not affect mental capabilities or
motor skill
 Case study 1

Britain's oldest 20-year-old man

has the body of a 160-year-old due
to rare condition

Dean has progeria, which means his body ages

eight times faster than normal
He says: 'I've never let the condition hold me back'
 Dean with his mother and father

Europes oldest sufferer of a rare ageing disease has

told how in just 20 years his body has become that of a
160-year-old.
Dean Andrews' body has aged eight times faster than
normal due to a rare condition called Hutchinson-Gilford
progeria.
He is one of just four progeria sufferers in the UK and
out of only 74 cases worldwide, Dean is thought to be
the second oldest survivor.
He said: 'Ive never let my condition hold me back. Ive
always tried to do what everyone else does and even if I
failed, at least I tried.
'My family has kept me going and Ive got very
supportive friends. Im very lucky as they do everything
they can to make me happy.'
Dean weighs just 3st 10lbs - but his small body holds a
big personality.
In his 20 years, Dean has learnt to drive, been engaged,
got four tattoos and once even started a mechanics
course at college. However, he was forced to quit when
he was unable to get his tiny 4ft 1in frame over the cars
bonnets.
Nevertheless, his achievements are astounding
considering that when he was diagnosed with progeria at
the age of seven, his mother Dawn Thomas, 41, was told
he would not live beyond his early teens.
Back then, the condition was so poorly documented that
most doctors had never even heard of it.
 Dawn said: 'When Dean was about six months old I
noticed he was a lot smaller than he should have been. He
was still wearing clothes for a 0-3-month-old baby but the
health visitors told me not to worry.

The mystery was eventually explained when a geneticist

broke the news that he had progeria.
Dawn said: 'The day before we were told, the doctor rang
up and told us to come in and said that I should bring
someone with me. I knew then that it was bad. I thought it
might even be cancer because his hair used to fall out so
easily.
'There was so little information available about progeria at
that time that I basically had to teach myself everything. All
we were told was that Dean was ageing eight times faster
than normal and that he would probably not live past 13.
'It was really hard to take and I ended up on anti-
depressants but it was Dean himself who gave me hope,
he never let anything get him down.'
Now both Dawn and Wayne devote their lives to Deans
full-time care at their council terrace home in Erdington.
Dean was living life to the full, but then in November last
year tragedy struck.
After suffering frequent breathlessness Dean was
admitted to hospital with suspected pneumonia. But
when doctors investigated, they found he was suffering
from irreversible heart failure.
He now spends most of his days at home where Dawn
tends to his every need.
Heart failure has changed my life a lot and I cant do a
lot of the things that I used to, but I have my family and
friends around me and they keep me going.
These days, he loves nothing more than relaxing in a
jacuzzi to soothe his swollen limbs - a side affect of the
heart failure - but the NHS withdrew his hydrotherapy
funding last year. He is currently trying to find somewhere
local that will allow him to use their facilities.
Dawn said: 'We are so proud of Dean and everything that
he has achieved but I also feel he has missed out on so
much.
Now we are just trying to make the time he has left as
comfortable and as happy for him as possible.

Case study 2
 The boy with the body of a 110-year-old: Ali
Hussain, 14, suffers from rare genetic disorder
that has killed five of his siblings and afflicts
only 80 people in the world

Ali Hussain, 14, has Progeria which makes his body age eight
times faster than normal
Two of his brothers and three sisters have died from the
genetic disease
His parents Nabi, 50, and Razi, 46, are first cousins
The couple, from Bihar, northern India, also have two healthy
daughters
Progeria is so rare that it took doctors in India 10 years to
diagnose Ali Hussain's oldest sibling

A 14-year-old boy has been left with the body of a 110-year-old

in India because he has a rare disease which makes him age
eight times faster than normal.
Ali Hussain has seen five of his siblings die from the same
condition called Progeria which is known to affect just 80
people worldwide.
Two of his brothers and three of his sisters have died from the
disease in Bihar, the poorest state in India.
Alis parents Nabi Hussain Khan, 50, and Razia, 46, are first
cousins and were the product of an arranged marriage 32 years
ago.
Their children Rehana, Iqramul, Gudiya and Rubina have all
died from Progeria between the ages of 12 and 24.
A fifth child, a boy who died within 24 hours of being born, is
also thought to have had the rare condition.

Nabia and Razia, who have had eight children in total, do have
two healthy daughters - Sanjeeda, 20, who is married with two
children of her own. Their youngest daughter Chanda, 10, also
does not have Progeria.
When their first daughter, Rehana, was born in 1983 they had
no idea anything was wrong at first. It was only after her second
birthday when she couldnt eat or walk properly did they visit a
doctor.
But the doctor was baffled and he sent them home with some
medicines. Progeria was so rare and poorly documented that
most doctors had never heard of it.

Two years later when their son Iqramul was born,and showed
the same symptoms, the family went back to the doctor.
But again, they were not offered any tests or possible
diagnosis.
Nabi, who works as a gatekeeper at a factory earning 2,000
rupees - or 20 - a month said: We never heard of the word
Progeria, the doctors never mentioned it. They were stabbing in
the dark; they were as clueless as us.

'If a doctor had perhaps told us that our children were suffering
with some kind of genetic problem and we were connected we
wouldve stopped having children. But nothing was said.
Nabi and Razia carried on having children hoping they would
conceive a healthy boy or girl eventually. Their wish was
granted when they had Sanjeeda.
In 1995, after years visiting different doctors, a consultant in
Kolkata finally diagnosed four of their children with Progeria
and broke the devastating news that there was no cure for any
of them.

The diagnosis didnt help, Nabi added. People were sure

there was a cure. No one in our community believed there was
nothing that could be done.
'Neighbours and extended family tormented us for not getting
them help, they couldnt understand a disease with no cure.

Ali and his parents are now supported by a Kolkata-based

charity called SB Devi Charity.
Pediatrician Dr Chandan Chattopadhyay, from Kolkata,
introduced the family to the organisation and now they help Ali
pay for his medical needs.
Ali spends all of his time with his mother and sisters, Sanjeeda,
20 and Chanda, ten, and he believes theres no one else like
him in the world.
But when told about the famous annual Progeria Reunion, run
by the Sunshine Foundation, he would love to attend.
Its very lonely living this life, especially since my siblings have
gone,' he added.
I dont know if theres anyone else like me. Id like to be in the
company of other people like me again.
Treatment:

There is no way to prevent progeria, and

there are currently no treatments that can
cure progeria. However, regular medical
care and certain treatments may help to
reduce some symptoms and slow
progression of the disease.
 The care of people with progeria is aimed
at minimising symptoms and
maximizing the quality of life as much as
possible.

Bibliography:
 myprogeriaproject.weebly.com/
www.nytimes.com/health/guides//disease/
progeria/overview.html
www.mayoclinic.org/diseases-
conditions/progeria/basics/symptoms/con
-2002942