cataract and five genes are involved. made by sadaf khoso and nida khoso

2. WELLCOME

3. CATARACT
Its a latin word meanz water fall

6. CAUSES

Genetic Cause.
Age.
Association with myopia
Enviremental
Obesity,Smoke,Eye
injury,U.V.malnuitrition,Aging,Family

7. SYMPTOUS
Blurrent vision
Due to scattering of light on retina.
Glared view,
trouble view,
 change in colour vision.

8. Types of Cataract
 Morphology.
 Capsule Cataract.
 Sub-Capsule Cataract
Nuclear cataract


10. Cataract is painless clouding of internal lens of eye.
Opacification and Degeneration of lens fiber.

12. Formation of aberrant lens fiber or
deposition of other material in their place.

14.  congenital Heredity
 Age onset
 Obesity
 diabetes
 UV rays

15. Gene Mutation
 Gene B B3 Crystal Line.
 Chromosomes 22 q 11.
 Mutation G-C transition in exon 6.
 Amino Acid Glycin to argnine substitution.

16.  B B3 crystalline protein.
 Beta crystalline are the most abundant
water soluble protein in the human lens
95% of soluble lens protein have essential
role in maintaining lens transparency.

17.  Sequencing of genes show that G/C transition
in axon 6 of crystalline B3 change on protein.
Due to transition of G/C the amino acid glycin
to argnine substitution.

18. HSF 4 GNENE
 Heat shock protein in response to
different cellular stresses such as
oxidant, heavy metals, elevated
temperature & bacterial or viral
infection.

19. Non Sense Mutation in 16 q 22.
 DNA sequencing shows that transition C>T
in exon 11 argnine into stop codon
exchangement.
 Premature termination.
 Complete loss of function aberrant HSF4
genes responsible both for Autosomal
dominant and Autosomal Recessive
Cataract.

21.  Glucose is highly consumed
monosaccharide which is converted
to Glucose 6 phosphate in four steps
known as the Glycolytic path way.
Any disturbance of these process
can potentially result glactosemia.
Autosomal Recessive
Cataract
GALK1 Gene

22. what is the normal fuction of GALKI?
Instruction gene for making enzyme.
This is responsible for one step chemical
process
That modifies the
Galactose into Galactose 1-phosphate
Than Galactose convert into the protien and
fats
Play important role in chemical signaling
Building cellular structure,transporating the
molecules and producing the energy

23. How are the changes in GALKI
genes related to health condition?
Galactosemia caused by mutation in GALKI
Shortage of the functional galactokinase 1 prevent
the cell to processing the galactose fron diet
As a result
Glactiol build up, that particulary make up the lens
of the eye
Accumulation of these substence damages the
Lens,causing it to cloudy and bacame the blurred
vision
Wich is called the Cataract

25. Where is the GALKI gene is located?
Cytogenic location: 17q24
Molecular location on
chromosomes 17bp: 75;757;936 to
75;765;198
Located on long arm 17 at
position 4

26. GALK1
 GALK I is involved in the first step of
metabolism of Galactose,
 the conversion of galactose to glactose 1
phosphate at the expenses of ATP.

27. GALK1
 In the absence of GALK 1 the
accumulating galactose is
converted into galactitol by aldose
reeducates.

28.  Accumulation and subsequent
osmotic swelling of galactitol. All
affected individual reported in this
study developed Cataract.

30. GALK I
 Human GALK 1 has been mapped to
chromosom 17 q 25.1. It contains 8 exon.
 Missence mutation.
 Deletion G in exon 3.

32. GALK1
 Single base pair deletion.
 Leucine changes into proline.
Lucine is highly conserved in
GALK 1.
 Deletion led to frame shift which
result in a premature termination
of the protein.

33. FYCO1 CHROMOSOME 3
 FYCO1 chromosome 3 contain 18
exon. 79 kb and encoding 1478
amino acid.

34. FYCO1
 Protein expressed in human lens.
Epithelial cell partially co localized
to micro tubules and found to
adjacent to Golgi but they primarily
co localize to autophago some.
FYCO1 is involved in lens
development and transparency in
human.

35. FYCO1
 C>T transition in exon 8.
 Amino acid argnine into stop codon.
 Non sense mutation.
 Pre mature termination of protein.
FYCO1 protein is non functional cause
cataract.

36. EPHA2
 EPHA2 genes encode a 976 amino
acid.
 The EPHA2 Protein has extra
cellular region containing the
ligand binding domain, cystein

37. EPHA2
 Rich domain and 2 fibro- -nectin domain a trans
membrane segment. EPHA2 interact with its
ligand A1 or phrin A5 to bring about bio
directional signalling.

38. EPHA2
 This signaling provide important
role in cell adhesion and cell
repulsion.
 Disruption of this signaling in the
lens is cause of cataracat.

39.  1 P 36.21
 1P 35.2
 Total exon 17
 Messense mutation
 G > A transition in exon 17
 Alanine to threonine structurally protein
change & fail in signaling cause cataract.
EPHA2

40. GJEI
 Gap junction protein as the lens is
an intravascular structure that lack
almost all cell organelles.
 Cell to cell communication is
brought about by extensive system
of gap junction protein.

41. GJEI
 Mutation in GJ has been reported to cause cataract.
 Chromosome 7q
 Gene GJEI mutation not identified.

42. GENE Mutation Chromosome Mutation
CRYBB3CRYSTALL
INE PROTEIN
G-C Transition in
axon 6 glycine to
arginine
22q11 Misense mutation
GALK 1 Galcto Deletion G in
axon 3
7q25.1 deletion
HSF4 heat show
transcription factor
C > T in axon 11 16Q22 Nonsense mutation
FYCO1 C >T Transition in
axon arginine into
3p22-p21 Nonsense mutation
EPHA2T G > A on 17
alanine in to
therorine
1P36.21 Misense mutation
Genes mutation in pakistan