About Jurgen Naggert, Ph.D.
Obesity and Type 2 diabetes mellitus (T2D) are highly prevalent metabolic diseases that afflict a large proportion of the aging population in the United States. Nearly 40 percent of adults are obese, and about 10 percent of individuals over 65 have T2D. These diseases, together with cardiovascular disease, should be viewed as aspects of a metabolic syndrome that is a result of the interaction of many genes, rather than a collection of separate entities. To illustrate the complexity of the issue, there are approximately 500 to 1,000 genes in mice that may lead to obesity when mutated. Our program aims to identify new obesity and type 2 diabetes mutations and their genetic modifiers and to determine how the underlying mutations cause the disease phenotype.
One focus of our investigations are ciliopathies (diseases caused by impaired function of primary cilia), which combine aspects of metabolic syndrome with sensory loss. Our laboratory identified a human gene, ALMS1, that is mutated in patients with Alström syndrome, a rare inherited condition characterized by childhood obesity, retinal and cochlear (inner ear) degeneration, type 2 diabetes, proliferative and dilated cardiomyopathy, hepatosteatitis, and kidney disease.
- Gogna N, Weatherly S, Zhao F, Collin GB, Pinkney J, Stone L, Naggert JK, Carter GW, Nishina PM. Genetic Interaction between Mfrp and Adipor1 Mutations Affect Retinal Disease Phenotypes. Int J Mol Sci. 2022 Jan 30;23(3):1615. doi: 10.3390/ijms23031615
- Collin GB, Gogna N, Chang B, Damkham N, Pinkney J, Hyde LF, Stone L, Naggert JK, Nishina PM, Krebs MP. Mouse Models of Inherited Retinal Degeneration with Photoreceptor Cell Loss. Cells. 2020 Apr 10;9(4):931. doi: 10.3390/cells9040931. PMID: 32290105
- Kong Y, Zhao L, Charette JR, Hicks WL, Stone L, Nishina PM, Naggert JK. An FRMD4B variant suppresses dysplastic photoreceptor lesions in models of enhanced S-cone syndrome and of Nrl deficiency. Hum Mol Genet. 2018 Oct 1;27(19):3340-3352. doi: 10.1093/hmg/ddy238.
- Maddalena A, Tornabene P, Tiberi P, Minopoli R, Manfredi A, Mutarelli M, Rossi S, Simonelli F, Naggert JK, Cacchiarelli D, Auricchio A. Triple Vectors Expand AAV Transfer Capacity in the Retina. Mol Ther. 2018 Feb 7;26(2):524-541. doi: 10.1016/j.ymthe.2017.11.019.
- Ji X, Chang B, Naggert JK, Nishina PM. Lysosomal Trafficking Regulator (LYST). Adv Exp Med Biol. 854: 745-750. 2016.
- Marshall JD, Muller J, Collin GB, Milan G, Kingsmore SF, Dinwiddie D, Farrow EG, Miller NA, Favaretto F, Maffei P, Dollfus H, Vettor R, Naggert JK. Alström Syndrome: Mutation Spectrum of ALMS1. Hum Mutat. 36(7):660-8. 2015.
- Favaretto F, Milan G, Collin GB, Marshall JD, Stasi F, Maffei P, Vettor R, Naggert JK. GLUT4 defects in adipose tissue are early signs of metabolic alterations in Alms1GT/GT, a mouse model for obesity and insulin resistance. PLoS One. 9(10): e109540. 2014.