Cilia C Flashcards
ciliopathies characterisitic:
- rare
- pleiotropic
- overlapping
- structural
- diverse
- genetically complex
rare
On average, the incidence is approximately 1:100,000. While each syndrome is rare the combined incidence of ciliopathies may be more prevalent and similar syndromes may be combined
pleitropic
Each ciliopathy is characterized by different clinical outcomes
overlapping
Most of the ciliopathies have overlapping phenotypes and genetic mutations
Structural
Mutations often affect core cilium structure and function
diverse
~50 genes are known to be mutated in ciliopathies to date
genetically complex
Mutations in the same gene (Cep290) can produce four
different clinical outcomes suggesting that second site modifier mutations and
genetic background is important to the clinical manifestations of ciliopathies
two major examples of ciliopathies:
- Bardet-Biedl syndrom (BBS)
2. Polycystic Kidney disease (PKD)
BBS inheritance
autosomal recessive
BBS proteins participate in
protein complex that is required for vesicle transport within the cilium
BBS symptoms
- Photoreceptor degeneration
- Anosmia
- Mental retardation / Developmental delay
- Neural tube defects
- Obesity
- Hypogonadism
- Kidney defects
- Polydactyly
- Diabetes
- situs sinversus
PKD inheritance
autosomal dominant (ADPKD)
autosomal recessive (ARPKD)
ARPKD is caused by
fibrocystin mutations
ADPKD is caused by
mutation in polycystin 1/2
PKD Genes encode _____ .
channel proteins that are responsible for calcium signaling.
These channels sense mechanical flow of urine in the kidney lumen to transduce calcium signaling
