Analysis of gene MT-ATP6/8 in patients with axonal Charcot-Marie-Tooth disease (CMT2)

• Grant number: 18/04645-0
• Support Opportunities: Scholarships in Brazil - Scientific Initiation
• Start date: September 01, 2018
• End date: August 31, 2020
• Field of knowledge: Health Sciences - Medicine
• Principal Investigator: Wilson Marques Junior
• Grantee: Alessandra Jacob Liporaci Antonini
• Host Institution: Faculdade de Medicina de Ribeirão Preto (FMRP). Universidade de São Paulo (USP). Ribeirão Preto , SP, Brazil

Abstract

Charcot-Marie-Tooth disease (CMT) is the most common hereditary neuropathy, affecting 1 in every 2500 people. It includes a heterogeneous group of genetic diseases that affect the peripheral nervous system and it is transmitted by different heredity patterns. The clinical presentation of this disease can be very variable and disabling. Motor neuropathy results in foot deformation (pes cavus) and hammer toe. There are two main forms of CMT: the demyelinating form (with reduced nerve conduction velocities) and axonal form (with normal conduction velocities). CMT2 is the axonal one, accounting for about one third of CMT cases. To date, several genes that cause CMT2 have been described, but mutations involving mitochondrial DNA have been poorly studied and are generally not considered to be a differential diagnosis in patients with CMT. The aim of this study is to identify mutations in the MT-ATP6/8 gene that may lead to the CMT2 phenotype. Other important contributions will be the possibility of genetic counseling and the performance of predictive tests.