whole-mount-immunostaining-automatic-counting-mouse-retinal-ganglion

Whole-Mount Immunostaining and Automatic Counting of Mouse Retinal Ganglion Cells

Glaucoma is a leading cause of blindness globally, characterized by a complex pathogenic mechanism that makes vision restoration challenging. Mice serve ...

University of Electronic Science and Technology of China

Glaucoma is an irreversible blinding eye disease. The mechanisms underlying glaucoma are complex. Up to now, no successful remedy has been found to completely cure the condition. High intraocular pressure (IOP) is an established risk factor for glaucoma and the only known modifiable factor for glaucoma treatment. Mice have been widely used to study glaucoma pathogenesis. IOP measurement is an important tool for monitoring the potential development of glaucomatous phenotypes in glaucoma mouse models. Currently, there are two methods of IOP measurement in mice: invasive and non-invasive. As the invasive method can cause corneal damage and inflammation, and most of the noninvasive method involves the use of anesthetics. In the course of our research, we designed a mouse fixation device to facilitate non-invasive measurements of mouse IOPs. Using this device, mouse IOPs can be accurately measured in awake mice. This device will help researchers to accurately assess mouse IOP without the use of anesthetics.

A new mouse-fixation device for IOP measurement in awake mice.

Multiple Endocrine Neoplasia type 1 () is a rare genetic disease, characterized by co-occurrence of several lesions of the endocrine system. In , the pathogenic  gene mutations lead to the Abnormal expression of menin, a critical tumor suppressor protein. We here reported a case of a 14-year-old male with insulinoma and primary hyperparathyroidism. Genetic testing demonstrated a novel heterozygote variant c.587delA of MEN1, resulting in the substitution of the 196th amino acid, changing from glutamic acid to glycine, followed by a frameshift translation of 33 amino acids. An identical variant was identified in the proband's father, who was further diagnosed with hyperparathyroidism. To the best of our knowledge, this is the first report of MEN1 syndrome caused by the c.587delA MEN1 variant. Observations indicated that, despite sharing the same MEN1 gene change, family members exhibited diverse clinical phenotypes. This underscored the presence of genetic anticipation within the familial context.

Haotian Huang

Sichuan Provincial Key Laboratory for Human Disease Gene Study,
Sichuan Provincial People's Hospital,
Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital

University of Electronic Science and Technology of China

Whole-Mount Immunostaining and Automatic Counting of Mouse Retinal Ganglion Cells

Haotian Huang

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University of Electronic Science and Technology of China

Whole-Mount Immunostaining and Automatic Counting of Mouse Retinal Ganglion Cells

Sichuan Provincial Key Laboratory for Human Disease Gene Study,
Sichuan Provincial People's Hospital,
Sichuan Provincial Key Laboratory for Human Disease Gene Study, Sichuan Provincial People's Hospital