Anorexia nervosa is associated with Neuronatin variants

Area of Science:

• Neuroscience
• Genetics
• Psychiatry

Background:

• Anorexia nervosa is a severe neuropsychiatric disorder characterized by dangerously low body weight and intense fear of weight gain.
• Previous research has not conducted whole exome sequencing in males with anorexia nervosa.

Purpose of the Study:

• To investigate the genetic basis of anorexia nervosa in males by performing exome analysis.
• To identify potential genetic variants associated with anorexia nervosa susceptibility.

Main Methods:

• Whole exome sequencing was performed on two independent families with male individuals diagnosed with anorexia nervosa.
• The Neuronatin (NNAT) gene was screened in a cohort of 8 male and 144 female anorexia nervosa patients.

Main Results:

• NNAT variants, including a nonsense variant (p.Trp33*) and a 5'UTR variant, were identified in male patients.
• NNAT variants were found in 40% of male and 6.25% of female anorexia nervosa patients.
• Two novel missense variants in NNAT were identified in female anorexia nervosa patients.

Conclusions:

• NNAT variants and altered NNAT expression may contribute to the susceptibility of developing eating disorders like anorexia nervosa.
• This study highlights NNAT as a potential genetic factor in anorexia nervosa, particularly in males.