Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene.

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Research Abstract Details 

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Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Abstract Text:

Juliette Gray,Giles S H Yeo,James J Cox,Jenny Morton,Anna-Lynne R Adlam,Julia M Keogh,Jack A Yanovski,Areeg El Gharbawy,Joan C Han,Y C Loraine Tung,John R Hodges,F Lucy Raymond,Stephen O'rahilly,I Sadaf Farooqi,

The neurotrophin brain-derived neurotrophic factor (BDNF) inhibits food intake, and rodent models of BDNF disruption all exhibit increased food intake and obesity, as well as hyperactivity. We report an 8-year-old girl with hyperphagia and severe obesity, impaired cognitive function, and hyperactivity who harbored a de novo chromosomal inversion, 46,XX,inv(11)(p13p15.3), a region encompassing the BDNF gene. We have identified the proximal inversion breakpoint that lies 850 kb telomeric of the 5' end of the BDNF gene. The patient's genomic DNA was heterozygous for a common coding polymorphism in BDNF, but monoallelic expression was seen in peripheral lymphocytes. Serum concentration of BDNF protein was reduced compared with age- and BMI-matched subjects. Haploinsufficiency for BDNF was associated with increased ad libitum food intake, severe early-onset obesity, hyperactivity, and cognitive impairment. These findings provide direct evidence for the role of the neurotrophin BDNF in human energy homeostasis, as well as in cognitive function, memory, and behavior.

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Publishing Authors By Initials

J Gray,GS Yeo,JJ Cox,J Morton,AL Adlam,JM Keogh,JA Yanovski,A El Gharbawy,JC Han,YC Tung,JR Hodges,FL Raymond,S O'rahilly,IS Farooqi,

For similar nutritional and metabolic diseases: nutrition disorders: overnutrition: obesity research abstracts see: nutritional and metabolic diseases: nutrition disorders: overnutrition: obesity research

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Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Journal Published:

PUBLICATION TYPE: Research Support, U.S. Gov't,

Journal: Diabetes

VOLUME: 55

Page Numbers: 3366-71

Journal Abbreviation: Diabetes

ISSN: 0012-1797

DAY: 3

MONTH: Dec

YEAR: 2006

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Information

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LANGUAGE: eng

NlmUniqueID: 372763

Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Keywords Mesh Terms:

KEYWORDS: Obesity

MESH TERMS: genetics

Chemical & Substance for Abstract: Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene. Information

Substance Name: DNA

Registry Number: 9007-49-2

Grant and Affiliation Information for Hyperphagia, severe obesity, impaired cognitive function, and hyperactivity associated with functional loss of one copy of the brain-derived neurotrophic factor (BDNF) gene.

AFFILIATION: University Department of Clinical Biochemistry, Cambridge Institute for Medical Research, Addenbrooke's Hospital, Cambridge, CB2 2XY, U.K.

Country: United States

AGENCY: United States NICHD

GRANT: Z01-HD-00641

ACRONYM: HD

MEDLINETA: Diabetes

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