DNA REPAIR DEFICIENCY

DISORDER
BY VISHWAS JANGDE
 WHAT IS DNA REPAIR PROCESS ?

• DNA REPAIR IS A COLLECTION OF PROCESSES BY WHICH A CELL IDENTIFIES

AND CORRECTS DAMAGE TO THE DNA MOLECULES THAT ENCODE ITS
GENOME. ... OTHER LESIONS INDUCE POTENTIALLY HARMFUL MUTATIONS IN THE
CELL'S GENOME, WHICH AFFECT THE SURVIVAL OF ITS DAUGHTER CELLS AFTER
IT UNDERGOES MITOSIS
 HOW IS DAMAGED DNA REPAIRD ?

• REPAIR PROCESSES THAT HELP FIX DAMAGED DNA INCLUDE: DIRECT

REVERSAL: SOME DNA-DAMAGING CHEMICAL REACTIONS CAN BE DIRECTLY
"UNDONE" BY ENZYMES IN THE CELL. EXCISION REPAIR: DAMAGE TO ONE OR A
FEW BASES OF DNA IS OFTEN FIXED BY REMOVAL (EXCISION) AND
REPLACEMENT OF THE DAMAGED REGION.
WHAT IS DNA REPAIR DEFICIENCY DISORDER ?

• A DNA REPAIR-DEFICIENCY DISORDER IS A MEDICAL CONDITION DUE TO

REDUCED FUNCTIONALITY OF DNA REPAIR. DNA REPAIR DEFECTS
CAN CAUSE AN ACCELERATED AGING DISEASE OR AN INCREASED RISK OF
CANCER, OR SOMETIMES BOTH.
 WHAT IS SYMPTOM OF DNA REPAIR
DEFICIENCY DISORDER
• ALTHOUGH HETEROGENEOUS IN RESPECT TO SELECTED SYMPTOMS, THESE
RARE DISORDERS SHARE MANY CLINICAL FEATURES SUCH AS GROWTH
RETARDATION, NEUROLOGICAL DISORDERS, PREMATURE AGEING, SKIN
ALTERATIONS INCLUDING ABNORMAL PIGMENTATION, TELANGIECTASIA,
XEROSIS CUTIS, PATHOLOGICAL WOUND HEALING AS WELL AS AN INCREASED
RISK OF DEVELOPING DIFFERENT TYPES OF CANCER. 
 CAUSE OF DNA REPAIR DEFICIENCY
DISORDER

HEREDITARY NONPOLYPOSIS COLORECTAL CANCER (HNPCC) IS VERY

OFTEN CAUSED BY A DEFECTIVE MSH2 GENE LEADING TO DEFECTIVE MISMATCH
REPAIR, BUT DISPLAYS NO SYMPTOMS OF "ACCELERATED AGING
 DISEASES CAUSED BY DNA REPAIR
DEFICIENCY DISORDER
• ATAXIA-TELANGIECTASIA.
• BLOOM SYNDROME.
• COCKAYNE SYNDROME.
• FANCONI ANEMIA.
• PROGERIA (HUTCHINSON–GILFORD PROGERIA SYNDROME)
• ROTHMUND–THOMSON SYNDROME.
• TRICHOTHIODYSTROPHY.
• WERNER SYNDROME