A novel substitution of proline (P32L) destabilises β2-microglobulin inducing hereditary systemic amyloidosis

Tatiana Prokaeva, Tracy Joshi, Elena S. Klimtchuk, Victoria M. Gibson, Brian Spencer, Omar Siddiqi, Dobrin Nedelkov, Yueming Hu, John L. Berk, Sarah A. M. Cuddy, Surendra Dasari, April Chiu, Lauren A. Choate, Ellen D. McPhail, Haili Cui, Hui Chen, Eric J. Burks, Vaishali Sanchorawala & Lawreen H. Connors
β2-microglobulin amyloidosis was first described in the 1980s as a protein deposition disease associated with long-term haemodialysis. More recently, two inherited forms resulting from separate point mutations in the β2-microglobulin gene have been identified. In this report, we detail a novel β2M variant, P32L, caused by a unique dinucleotide mutation that is linked to systemic hereditary β2-microglobulin amyloidosis. Three family members from a Portuguese kinship featured cardiomyopathy, requiring organ transplantation in one case, along with...
1 citation reported since publication in 2022.
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