IBMPFD Flashcards
what does IBMPFD stand for?
Inclusion body myopathy, paget’s disease of the bone and frontotemporal dementia
What are clinical features of inclusion body myopathy?
- scapular winging
- foot drop
- absent or reduced deep tendon reflex’s
What is inclusion body myopathy?
Muscle disease characterised by a progressive proximal myopathy with milder distal weakness
What is Paget’s disease of bone?
Common disease of the bone affecting 5% of casucasians over the age of 50
Overactive osteoclasts and compensatory accelerated osteoblast activity
Describe FTD neuropathology;
Cerebral atrophy in frontal & anterior temporal lobes
Impaired executive functioning and inappropriate behaviour
What are pedigrees?
Shows relationships between families and indicates which individuals have certain genetic pathogenic traits
What are pedigrees used for?
To determine disease inheritance patterns within a family
How is IBMPFD defined on a molecular level?
By the presence of mutations in valosin containing protein, a member of the AAA-ATPase protein superfamily
What four domains is VCP composed of?
N-terminal domain
two ATPase domains
D1 & D2
C-terminal domain
What does VCP form?
A hexameric barrel of six-fold symmetry
(Where D1&D2 domains of each subunit are joined in a head to head fashion while the N domain juts out of the apex of the D1&D2 domains)
What does VCP form?
Hexameric barrel of 6-fold symmetry
Where D1&D2 domains of each subunit are joined in a head fashion while the N domain just out from the apex of the D1&D2 domains
How many residues and mutations are in VCP mutations?
12 residues
17 mutations
Outline the two types of skeletal muscle fibre;
Slow-type 1
Fast- type 2
Describe type 1 of skeletal muscle fibres;
Smaller in diameter
Contract more slowly
Termed as red fibres due to presence of myoglobin
Describe type 2 of skeletal muscle fibres;
Large in diameter
Have large glycogen reserves
Have densely packed myofibrils
Contain relatively few mitochondria
