Del Pozo-Yauner, who also is a biochemist with USA Health, has devoted the past 20 years to amyloidosis research. Proteins are the molecules responsible for translating the information encoded in the cellular genome into specific molecular actions that sustain life. Amyloidosis occurs when abnormal proteins called amyloids build up in tissue and organs. The result is impaired function of the affected organs and systems, causing disease.
“Humans can suffer from a number of diseases caused by or associated with amyloid deposition, a category of diseases known collectively as amyloidoses,” del Pozo-Yauner said. “In the last decades, some amyloidoses – such as Alzheimer’s and Parkinson’s diseases, type 2 diabetes mellitus and prion diseases – have acquired great relevance due to the increase of their worldwide incidence and severe impact on the quality of life of the affected patients that characterize their clinical evolution.”
Among the findings he presented at the meeting was experimental evidence for the presence of segments in the immunoglobulin light chains – proteins made by plasma cells – with a specific pattern of amino acid sequence. These sequences, known as pro-amyloidogenic sequences, determine the propensity of light-chain proteins to aggregate as amyloid fibrils. “The identification of pro-amyloidogenic sequences is important because they constitute potential targets for therapeutic agents designed to inhibit light-chain amyloid aggregation,” he said.
He also presented the results of a recent study, performed in collaboration with two European laboratories, aimed at determining the structure of amyloid fibrils formed by a family of light chains that shows a strong association with AL (amyloid light-chain) amyloidosis, a bone marrow disorder.
“My research, together with those being carried out in other laboratories, could help to develop new strategies for the diagnosis, treatment and clinical evaluation of patients with AL amyloidosis,” del Pozo-Yauner said.
Collaborators on the research included Guillermo Herrera, M.D., professor and chair of pathology at the USA College of Medicine; Louise Serpell, Ph.D., professor of biochemistry at the University of Sussex; Beat Meier, Ph.D., professor of physical chemistry at ETH Zürich; and Anja Böckmann, Ph.D., a researcher at the University of Lyon.
Del Pozo-Yauner received his medical degree from Cienfuegos Medical School in Cuba and went on to earn his Ph.D. in biochemistry at the Institute of Biotechnology UNAM in Cuernavaca, Morelos, Mexico. He joined the faculty of the USA College of Medicine in 2019.