Dr. Johnny Fares received his M.Sc. from the University of Michigan, Ann Arbor in 1988 and his Ph.D. from the University of North Carolina at Chapel Hill in 1994. He has been a University of Arizona faculty member since 2001. Dr. Fares on Mentoring
Hanna (Johnny) Fares
Office Address: Life Science South 533
Lab Address: Life Science South 503
Phone: (520) 626-3759
What we do
Lysosomes are membrane-bound organelles that serve as the major degradative compartments for endocytic, phagocytic, and autophagic materials targeted for destruction in eukaryotic cells. Lysosomes also mediate some cell death pathways and play crucial roles in wound repair. Indeed, lysosomal dysfunction is a hallmark of many diseases, including some referred to as lysosomal storage disorders. Given this central importance of lysosomes, it is striking that little is known about how lysosomes are formed, the process we refer to as lysosome biogenesis.
Mucolipidosis type IV is a neurodegenerative lysosomal storage disorder that is characterized by severe psychomotor retardation, achlorhydria, and ophthalmological abnormalities; most tissues show lysosomal defects resulting in abnormally enlarged vacuoles that accumulate various material. In spite of this general lysosomal defect, neurons are the primary cells that die in Mucolipidosis type IV patients. Mucolipidosis type IV is due to mutations in the gene MCOLN1 that encodes the transient receptor potential protein TRPML1/mucolipin-1. It is still not known how loss of TRPML1 leads to lysosomal defects and neuronal death.
The goals of our studies are two-fold:
- To elucidate mechanisms of lysosome biogenesis.
- To decipher the basis for lysosomal dysfunction and cell death in the lysosomal storage disorder Mucolipidosis type IV.