
Obesity Resistance: GRASP55, PEPD and LTB4 Research
Some people stay lean on a high-fat diet. Studies of Grasp55 in mice, macrophage PEPD in adipose tissue and LTB4/Ltb4r1 signaling are summarized, with testing uses.

MD · MBA
Physician specializing in genetic analysis and personalized preventive medicine, and author of Outsmart Your Genes.
Brandon Colby is a physician-expert in the fields of genetic analysis and Personalized Preventive Medicine. He holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University's Graduate School of Business, and a degree in Genetics from the University of Michigan.
Dr. Colby is the author of the book Outsmart Your Genes and has developed numerous technologies that improve the analysis, interpretation, and actionability of genome sequencing data. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC).
Articles by Brandon Colby, MD are reviewed for accuracy by Sequencing's medical and scientific team. This page is for informational purposes and does not constitute medical advice.

Some people stay lean on a high-fat diet. Studies of Grasp55 in mice, macrophage PEPD in adipose tissue and LTB4/Ltb4r1 signaling are summarized, with testing uses.

Eye, skeletal and dental features of oculoskeletodental syndrome include cataracts, scoliosis and enamel hypoplasia; genetic testing helps confirm a diagnosis.

Nystagmus, strabismus and reduced visual acuity can follow underdevelopment of the optic nerve, alone or within McCune Albright or renal coloboma syndrome.

Skin thickening on the palms and soles can occur with both male and female reproductive tissue present; RSPO1 mutations link the two, and testing supports counseling.

Somatic mutations arise in parathyroid cells rather than the germline, so they are not passed on; MEN1, CASR, EZH2 and FAT1 are among the genes found in these tumors.

Neurons that stop short in fetal development form nodules beside the lateral ventricles, linked to epilepsy and developmental delay; array-CGH is a first-line test.

Fibrous tissue replaces normal bone in PFD, bringing pain, deformity and fractures, and the somatic mutations behind it arise during development and are not inherited.

Variation in the PPARGC1B gene, which helps regulate cellular energy metabolism, has been linked with autism spectrum disorder, short stature and pregnancy loss.