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Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome

Fecha de publicación: Fecha Ahead of Print:

Autores de IIS La Fe

Participantes ajenos a IIS La Fe

  • Alvarez-Mora, MI
  • Santos, C
  • Carreno-Gago, L
  • Madrigal, I
  • Tejada, MI
  • Izquierdo-Alvarez, S
  • Garcia-Arumi, E
  • Mila, M
  • Rodriguez-Revenga, L

Grupos

Abstract

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a late-onset neurodegenerative disorder that appears in at least one-third of adult carriers of FMR1 premutation. Several studies have shown that mitochondrial dysfunction may play a role in neurodegenerative disorders. In order to assess whether mitochondrial DNA variants are involved in the risk of developing FXTAS we evaluated the frequency of mitochondrial haplogroups in 132 unrelated Spanish FMR1 premutation carriers. In addition, the entire mitogenome of 26 FMR1 premutation carriers was sequenced using massively parallel sequencing technologies to analyze mitochondrial DNA variants. Statistical analyses reveal a significant difference in the frequency of T haplogroup. Data analysis of mitochondrial DNA sequences evidence an association between FXTAS and the burden of heteroplasmic variants as well as their distribution. Our results suggest that haplogroup T might be a potential protective factor for FXTAS and that FXTAS individuals accumulate higher rates of heteroplasmic variants in compromised regions of the mitochondrial genome. These results may explain, in part, the role of mitochondrial DNA in the development of FXTAS.

Datos de la publicación

ISSN/ISSNe:
1567-7249, 1872-8278

Mitochondrion  Elsevier BV

Tipo:
Article
Páginas:
157-162
Factor de Impacto:
1,397 SCImago ℠
Cuartil:
Q2 SCImago ℠

Citas Recibidas en Web of Science: 4

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Keywords

  • FXTAS; FMR1 premutation; Mitogenome; Risk factors; mtDNA haplogroups; Low-level heteroplasmic variants

Proyectos asociados

RED DE BIOBANCOS (BIOBANCOS)

RD09/0076/00021 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2010

COMPREHENSIVE, INTEGRATIVE AND GENOMIC APPROACH TO THE UNDERSTANDING AND TREATMENT OF CANCER AND LEUKEMIA.

Investigador Principal: MIGUEL ÁNGEL SANZ ALONSO

PIE13/00046 . INSTITUTO DE SALUD CARLOS III; FUNDACIÓN PARA LA INVESTIGACIÓN DEL HOSPITAL UNIVERSITARIO LA FE DE LA COMUNIDAD VALENCIANA . 2014

LA RUTA DE LA OXITOCINA EN LOS TRASTORNOS DEL ESPECTRO AUTISTA: IMPORTANCIA DE LAS VARIANTES GENÉTICAS CON RELEVANCIA FUNCIONAL.

Investigador Principal: CARMEN ORELLANA ALONSO

2014_0056_CRC_ORELLANA . 2014

ABORDAJE GENÓMICO PARA LA IDENTIFICACIÓN DE NUEVOS GENES Y MÓDULOS FUNCIONALES RESPONSABLES DE DISCAPACIDAD INTELECTUAL GRAVE.

Investigador Principal: FRANCISCO MARTÍNEZ CASTELLANO

PI14/00350 . INSTITUTO DE SALUD CARLOS III . 2015

NUEVA APROXIMACIÓN GENÓMICA PARA EL DIAGNÓSTICO DE AUTISMO Y DISCAPACIDAD INTELECTUAL: IMPORTANCIA DE LAS MUTACIONES ADQUIRIDAS EN MOSAICISMO SOMÁTICO Y DE NUEVOS GENES CANDIDATOS.

Investigador Principal: SANDRA MONFORT MEMBRADO

2018_0170_CRC_MUTUA MADRILEÑA_MONFORT . FUNDACION MUTUA MADRILEÑA . 2018

Contrato Post FSE (Rio Hortega).

Investigador Principal: FRANCISCO MARTÍNEZ CASTELLANO

CM19/00181 . INSTITUTO DE SALUD CARLOS III . 2020

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