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Tuesday, 20 November 2007

My project (8)

Intracellular levels of copper are in part controlled by two copper-transporting P-type ATPases, ATP7A(Menkes disease protein, MNK) and ATP7B(Wilson disease protein, WND). Both transporters are made up of 8 transmembrane domains and hydrolase ATP to translocate ions across cell membranes. MNK is involved in copper absorption, predominantly in the intestine and the kidney, whilst WND localizes predominantly to the liver and regulates copper clearanceby excreting it into bile.

MENKES DISEASE(#309400)

Clinical Synopsis
INHERITANCE :
X-linked recessive
GROWTH :
Height
Short stature
Other
Intrauterine growth retardation
HEAD AND NECK :
Head
Microcephaly
Brachycephaly
Wormian bones
Face
Pudgy cheeks
CARDIOVASCULAR :
Vascular
Intracranial hemorrhage
SKELETAL :
Osteoporosis
Skull
Wormian bones
Limbs
Metaphyseal widening with spurs
SKIN, NAILS, HAIR :
Skin
Hypopigmentation
Hair
Steely, kinky, sparse hair
Twisted and partial breaks on magnification
NEUROLOGIC :
Central nervous system
Degenerative neurologic disorder with onset age 1 month
Hypertonia
Seizures
Intracranial hemorrhage
Hypothermia
LABORATORY ABNORMALITIES :
Low copper and ceruloplasmin

WILSON DISEASE (#277900)

Clinical Synopsis
INHERITANCE :
Autosomal recessive
HEAD AND NECK :
Eyes
Kayser-Fleischer ring
ABDOMEN :
Liver
Atypical or prolonged hepatitis
Hepatic cirrhosis
Hepatic coma
Hepatomegaly
Liver failure
High liver copper
Gastrointestinal
Esophageal varices
GENITOURINARY :
Kidneys
Renal tubular dysfunction
Renal calculi
SKELETAL :
Osteoporosis
Osteomalacia
Chondrocalcinosis
Limbs
Osteoarthritis
Joint hypermobility
NEUROLOGIC :
Central nervous system
Tremor
Dysarthria
Dysphagia
Personality changes
Dementia
Poor motor coordination
Dystonia
Drooling
Peripheral nervous system
Mixed demyelinating and axonal polyneuropathy (rare)
ENDOCRINE FEATURES :
Hypoparathyroidism
HEMATOLOGY :
Hemolytic anemia
LABORATORY ABNORMALITIES :
Low serum ceruloplasmin
High nonceruloplasmin-bound serum copper
High urinary copper
Proteinuria
Aminoaciduria
Glycosuria
Uricaciduria
Hyperphosphaturia
Hypercalciuria
MISCELLANEOUS :
Incidence in United States of 1 in 55,000
Incidence worldwide of 1 in 30,000 to 50,000

1 comment:

praspowt said...

The importance of copper transport in human development is underscored by studies linking mutations the genes ATP7A and ATP7B with the clinical pathologies observed in Menkes and Wilson disease, prevents biliary excretion of the metal and cause copper accumulation ( and subsequent damage) in the liver. Mutations in ATP7A casue Menkes disease, a fatal X linked disorder that leads to death in early childhood, caused in part by neurological degeneration. Menkes disease results from systemic copper deficiency caused by the failure of ATP7A to translocate copper from the small intestine into the circulation for delivery to the rest of the body