The tests showed that cells with extra atlastin had an overdeveloped endoplasmic reticulum (ER), a system of interconnected membrane tubes and chambers that's critical for normal cell function. The tests also showed too little atlastin led to a fragmented ER. Flies with defective atlastin were sterile and short-lived.
"The endoplasmic reticulum is an ever-changing environment," McNew said. "It grows. It retracts. It expands. It collapses. It's highly dynamic, and for that to be the case, there has to be a mechanism by which it can grow new pieces and connect those pieces together. That's where the fusion comes in."
Daga said the discovery will lay the foundation for a deeper understanding of both basic biological processes and disease.
"We hope the findings lead to a better understanding of hereditary spastic paraplegia (HSP), the genetic disorder that atlastin has been linked with," Daga said.
HSP is a rare genetic condition that affects fewer than one million people worldwide. It's marked by a partial paralysis of the lower extremities due to defects in the body's longest cells, the neurons that run from the spine through the legs.
Daga said atlastin's role in building and maintaining a healthy ER may help HSP researchers better understand why neurons are affected first.
"This is the first clue," Daga said. "We have the definition of what the protein does. Now we need to explore how it does that, and what it means."
|Contact: Jade Boyd|