SLIDE 10 → Lysosomal-Storage Disorders: rare and recessively inherited metabolic dysfunctions. Often associated with severe neurodegeneration, mental decline, cognitive problems and behavioral abnormalities. → Griscelli Syndrome: divided in 3 sub-types - GS1, GS2 and GS3 - caused by mutations in MYO5A, RAB27A or
- MLPH. All the forms present hypopigmentation of the
hair and skin, and in the case of GS2 also immune dysfunction. → Hermansky-Pudlak Syndrome: Patients present a combination of albinism and bleeding diathesis. → Choroideremia: rare X-linked retinal degeneration caused by mutations in Rab-escort protein 1 (REP1). This disease is a good candidate for treatment by gene therapy.
Lysosomal Disorders
→ Primary ciliary dyskinesia: rare genetic disorder caused by inherited defects in motile ciliary
- function. Characterized by recurrent respiratory
infections, it typically progresses to bronchiectasis and can result in chronic lung failure in adulthood. → Polycystic kidney disease: genetic disorder in which the renal tubules become structurally abnormal, resulting in the development and growth of multiple cysts in the kidneys. → Joubert syndrome: disorder
brain development that affects many parts of the body and it is characterized by the absence
underdevelopment of the cerebellar vermis and a malformed brain stem.
Ciliopathies
LYSOCIL Scientific Axes
