1. Our (2006)1 in-a-million man !!!
Mr Jeremy Gibbs… doing some science

2. Jeremy has a condition known as:
hyperlipidaemia or.. lipoprotein lipase (LPL) deficiency
A blood test revealed a lipoprotein lipase enzyme level of 4.4 (cf normal )
From Jeremy’s medical notes
DNA analysis : Jeremy has a mutation where he is homozygous for W393C
He has G to T transversion in exon eight
The implication is that Jeremy has LPL deficiency due to homozygosity for the mutation inherited from each of his parents……

3. The lipoprotein lipase gene was examined in his family by sequencing each exon . This revealed a missense mutation in exon 8 of the gene, which predicts a change from tryptophan to cysteine at residue 393 (we will come back to this soon….)
The mutation was heterozygous in each parent and homozygous in Jeremy. Sequencing results were confirmed by restriction enzyme analysis (we will come back to this later in the year)

4. The point mutation causes this…..

5. --------T G G ------ --------T G T ------
Most of us Jeremy
Coding DNA
T G G T G T
Template
DNA
A C C A C A
Messenger RNA
U G G U G U
Amino Acid
TRYPTOPHAN CYSTEINE
So what….
what might changing an aa to CYS do to a protein (enzyme) ? Think about the connection between CYS and enzyme shape

6. The genetics of it all…..
LPL deficiency is an autosomal recessive trait, about 1 in every 1000 people carry a copy of the allele
What is the chance of two of these meeting up?
About 1 in a million!!! (1/1000 x 1/1000)
The punnett sq….

7. MUM E e X E e
E E
E e
e e
DAD
E e
Our boy Jeremy !!!

8. Thanks Jeremy (and family) for allowing use of your ….. stuff