Mucolipidosis Type IV
Mucolipidosis Type IV (ML-IV) is a rare disease which causes a reduced mental capacity and blindness. ML-IV is caused by a missing or malfunctioning TRPMLI protein. Most patients never learn how to talk or how to walk and their mental capacity rarely surpasses 18 months. Symptoms begin before the age of 1 and most children are blind by 12 years old. It also causes issues with the digestive track and muscle weakness. The condition is genetic and affects people of Ashkenazi Jewish descent. Worldwide, only 200 people are diagnosed with ML-IV. There is currently no cure and the disease has limited treatment options.
Researcher Math Caujungco has dedicated his life to the investigation of this disease. His research on ML-IV began a decade ago and this year he has been awarded the 2019 Faculty Research Award from California State University’s Program for Education and Research in Biotechnology.
Caujungco is a neuroscientist at California State Fullerton where he has been working as a biological science professor since 2007. He first became interested in ML-IV after conducting research at Harvard University. Caujungco conducted his predoctoral research there, focused on the abnormal zinc metabolism found within Alzheimer’s disease.
He also did research on familial dysautonomia which, like ML-IV, often is found in individuals of Ashkenazi Jewish descent. Dr. Caujungco was a part of the team that actually discovered the gene which causes this degenerative disease.
Caujungco went on to obtain his doctorate in neuroscience from the University of Auckland in New Zealand. However, he has experience in the fields of biotechnology, chemistry, and microbiology, as well as neuroscience, and his broad knowledge bas has helped him in his research for ML-IV.
In addition to receiving the 2019 Faculty Award, Last May he received the Donald Shields Excellence in Scholarship and Creativity Award for his work.
Caujungco’s Research for ML-IV
Over the years, Dr. Caujungco has received approximately 1 million dollars in research grants from the NIH and the National Science Foundation. He has also published research in over 40 peer-reviewed papers.
In 2010, Dr. Caujungco, along with his students, discovered that zinc accumulates in the lysosomes of individuals with ML-IV. zinc can lead to the degeneration and death of cells, therefore leading to neurodegenerative conditions. Additionally, his lab found that TMEM163, a protein, interacts with the protein TRPMLI and binds to zinc, shining light on how specifically the zinc accumulates in ML-IV.
His team has been awarded a grant by the NIH for 400,000 dollars to continue investigating zinc in ML-IV. Caujungco’s hope is that their research will help us understand the exact role that TMEM163 plays in the condition.
Ultimately, knowing exactly what causes the disease, is an essential step in developing therapeutic options. From his research so far, Dr. Caujungco believes that a drug which binds to zinc and removes it from the brain could be a potential new treatment for the condition. His hope is that by stopping zinc accumulation, ML-IV cells would be protected.
The examination of the role of zinc in this disease has never been investigated before and it will be exciting to see what comes from this research.
Caujungco’s Impact on Students
In addition to novel research, perhaps the most important job of researchers at universities, is to be a mentor for the individuals who will advance the field in the future. Dr. Caujungco’s students attest to his impact.
“What I admire most about Dr. Cuajungco is his remarkable ability to stimulate his students when experiments don’t work.”
These are words from one of his former students, Mohammad Samie. Research is rarely a simple upward trajectory. There are highs and lows, successes and failures. The ability to navigate challenges in research and stay optimistic and determined to continue when things don’t go as planned, is an essential skill for researchers. Dr. Cuajungco not only possesses this perseverance, but he teaches it to his students, the next generation of scientists.
Perhaps what has kept Dr. Cuajungco’s determination higher than anything else, is his interaction with real patients living with the disease. Too often the world of research seems to take place on a separate planet from where people actually live with rare diagnoses. But Cuajungco makes it a point to meet with his ML-IV patients once every two years. These patients come from all over the world including nations as far away as Australia, Brazil, and Israel.
You can read more about Dr. Caujungco’s past and present research in ML-IV here.