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A Robust Polymerase Chain Reaction-based Assay for Quantifying Cytosine-guanine-guanine Trinucleotide Repeats in Fragile X Mental Retardation-1 Gene
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Aging in Fragile X Premutation Carriers.

Reymundo Lozano1, Naomi Saito2, Dallas Reed3

  • 1Seaver Autism Center for Research and Treatment, Departments of Genetics and Genomic Sciences, Psychiatry, and Pediatrics, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, Box 1230, New York, NY, USA. Reymundo.lozano@mssm.edu.

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Summary
This summary is machine-generated.

FMR1 premutation carriers (PC) have higher rates of hypertension and thyroid issues. Those with fragile X-associated tremor ataxia syndrome (FXTAS) may also face increased diabetes risk, warranting further investigation.

Keywords:
AtaxiaCognitionFMR1FXTASFragile X syndromePremutation

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Area of Science:

  • Genetics
  • Neurology
  • Endocrinology

Background:

  • FMR1 premutation carriers (PC) are susceptible to neurological, psychiatric, and immune disorders.
  • Conflicting data exists on the incidence of comorbidities like hypertension, hypothyroidism, diabetes, and cancer in PCs.

Purpose of the Study:

  • To investigate the prevalence of hypertension, hypothyroidism, diabetes, and cancer in FMR1 PCs compared to controls.
  • To explore differences in these conditions between PCs with and without fragile X-associated tremor ataxia syndrome (FXTAS).

Main Methods:

  • A retrospective controlled study involving 397 FMR1 PCs and 248 controls, all aged 45 and older.
  • Assessments included cognitive tests (WAIS-III, WMS-III), molecular testing, BMI, cholesterol, blood pressure, HbA1c, and medical history.
  • Comparison between controls and PCs, and between PCs with and without FXTAS.

Main Results:

  • PCs reported higher rates of hypertension (50.0% vs. 35.0%) and thyroid problems (20.4% vs. 10.0%) than controls.
  • A trend towards higher diabetes incidence was observed in PCs with FXTAS compared to controls, but not statistically significant after adjustments.
  • No significant differences were found in blood pressure, HbA1c, or BMI between groups.

Conclusions:

  • FMR1 PCs exhibit a higher self-reported incidence of hypertension and thyroid issues.
  • Individuals with FXTAS may have an elevated risk for hypertension, thyroid problems, and potentially diabetes, requiring further validation.
  • Cognitive function, particularly WAIS full-scale IQ, was lower in PCs with FXTAS compared to those without.