THE SPECTRUM OF MUTATIONS OF THE TRANSTHYRETIN GENE IN A COHORT OF PATIENTS WITH CHRONIC HEART FAILURE
https://doi.org/10.18705/2311-4495-2016-3-1-34-38
Abstract
Objective. The aim of present study was to identify transthyretin amyloidosis (ATTR amyloidosis) in a selected cohort of patients with chronic heart failure (CHF) and establish the mutations spectrum of the transthyretin gene. Methods and Results. 257 patients with CHF have been examined. Clinical examination, immunochemical staining and genetic analysis were performed. Mutations V30M, H90N, N98N, G6S and deletion (del9) in the TTR gene have been detected. Conclusion. In the studied cohort of patients with heart failure found a relatively high frequency of mutations of the transthyretin gene. We assume that it is important to improve the diagnostics of TTR-related familial amyloidosis in Russia.
About the Authors
A. Ya. Gudkova
Pavlov First Saint Petersburg State Medical University; Federal Almazov North-West Medical Research Centre
Russian Federation
Russian Federation
E. N. Semernin
Federal Almazov North-West Medical Research Centre
Russian Federation
Russian Federation
A. A. Polyakova
Pavlov First Saint Petersburg State Medical University; Federal Almazov North-West Medical Research Centre
Russian Federation
Russian Federation
A. N. Krutikov
Federal Almazov North-West Medical Research Centre
Russian Federation
Russian Federation
K. V. Solovyov
Scientific Research Institute of Experimental Medicine RAMS
Russian Federation
Russian Federation
N. A. Grudinina
Scientific Research Institute of Experimental Medicine RAMS; Federal Almazov North-West Medical Research Centre
Russian Federation
Russian Federation
M. M. Shavlovsky
Institute of experimental medicine; North-Western State Medical University named after I. I. Mechnikov
Russian Federation
Russian Federation
References
1. Andrade C, Canijo M, Klein D et al. The genetic aspects of the familial amyloidotic polyneuropathy: Portuguese type of amyloidosis. Hum. Genet. 1969; 7: 163175.
2. Wilczek H.E, Larsson M, Ericzon B.G. Long-term data from the Familial Amyloidotic Polyneuropathy World Transplant Registry (FAPWTR). Amyloid. 2011; 18 (Suppl 1): 193-195.
3. Соловьев К. В., Грудинина Н.А., Семернин Е.Н. и соавт. Мутации V30M, H90N и del9 в гене транстиретина у больных с кардиомиопатиями в Санкт-Петербурге. Генетика. 2011; 47 (2): 1-7.
Review
For citations:
Gudkova A.Ya., Semernin E.N., Polyakova A.A., Krutikov A.N., Solovyov K.V., Grudinina N.A., Shavlovsky M.M. THE SPECTRUM OF MUTATIONS OF THE TRANSTHYRETIN GENE IN A COHORT OF PATIENTS WITH CHRONIC HEART FAILURE. Translational Medicine. 2016;3(1):34-38. (In Russ.) https://doi.org/10.18705/2311-4495-2016-3-1-34-38
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