Faculty Sponsor

Dr. Judith D. Ochrietor , Ronald L. Wilson, MMS (Mayo Foundation for Medical Education and Research, Department of Neuroscience)

Faculty Sponsor College

College of Arts and Sciences

Faculty Sponsor Department

Biology

Location

SOARS Virtual Conference

Presentation Website

https://unfsoars.domains.unf.edu/common-gba-variants-in-parkinsons-disease-and-lewy-body-dementia-patients/

Keywords

SOARS (Conference) (2020 : University of North Florida) -- Posters; University of North Florida. Office of Undergraduate Research; University of North Florida. Graduate School; College students – Research -- Florida – Jacksonville -- Posters; University of North Florida – Undergraduates -- Research -- Posters; University of North Florida. Department of Biology -- Research -- Posters; Health Sciences -- Research – Posters

Abstract

Parkinson’s disease (PD) and Lewy Body Dementias (LBD) are two distinct synucleinopathies with a great amount of symptomatic and genetic overlap. This overlap can often lead to misdiagnosis. Misdiagnosis can result in improper therapy and therefore a poorer prognosis. LBD is a neuropath diagnosis with subcategories, but for the purpose of this project we discuss LBD as a whole. GBA is a gene common to both diseases with different effect sizes in each, although increasing severity of disease for both. Common is defined as a presence greater than 1% in healthy controls. GBA is found in 2-37% of Parkinson cases worldwide, with Ashkenazi Jews having the highest frequency of mutation. Our PD cohort is a clinical series, whereas our LBD cohort is a pathological series. A clinical LBD series can skew results as they are often misdiagnosed, so there is more certainty behind a pathological series. Here, we screened ~200 samples for E365K and T408M, two common GBA variants. We have reviewed the clinical implications of being a GBA carrier for both diseases and have identified differences. We have genotyped ~1200 LBD samples for these two common variants. Now that we know GBA plays a role in each disease, we can better understand the mechanism of pathogenesis and can identify potential therapy targets for GBA carriers. These therapeutic targets could be a gateway to cures and therapies for an otherwise incurable condition.

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Apr 8th, 12:00 AM Apr 8th, 12:00 AM

Common GBA Variants in Parkinson's Disease and Lewy Body Dementia Patients

SOARS Virtual Conference

Parkinson’s disease (PD) and Lewy Body Dementias (LBD) are two distinct synucleinopathies with a great amount of symptomatic and genetic overlap. This overlap can often lead to misdiagnosis. Misdiagnosis can result in improper therapy and therefore a poorer prognosis. LBD is a neuropath diagnosis with subcategories, but for the purpose of this project we discuss LBD as a whole. GBA is a gene common to both diseases with different effect sizes in each, although increasing severity of disease for both. Common is defined as a presence greater than 1% in healthy controls. GBA is found in 2-37% of Parkinson cases worldwide, with Ashkenazi Jews having the highest frequency of mutation. Our PD cohort is a clinical series, whereas our LBD cohort is a pathological series. A clinical LBD series can skew results as they are often misdiagnosed, so there is more certainty behind a pathological series. Here, we screened ~200 samples for E365K and T408M, two common GBA variants. We have reviewed the clinical implications of being a GBA carrier for both diseases and have identified differences. We have genotyped ~1200 LBD samples for these two common variants. Now that we know GBA plays a role in each disease, we can better understand the mechanism of pathogenesis and can identify potential therapy targets for GBA carriers. These therapeutic targets could be a gateway to cures and therapies for an otherwise incurable condition.

https://digitalcommons.unf.edu/soars/2020/spring_2020/129