Related Experiment Video
Updated: Jul 1, 2026
08:51
Data Acquisition and Analysis In Brainstem Evoked Response Audiometry In Mice
Published on: May 10, 2019
11.7K
KMT2D Deficiency Causes Sensorineural Hearing Loss in Mice and Humans.
Allison J Kalinousky1, Teresa R Luperchio1, Katrina M Schrode2
1McKusick-Nathans Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, MD 21205, USA.
Genes
|January 23, 2024
Summary
Kabuki syndrome type 1 (KS1) causes sensorineural hearing loss in children, often starting around age seven. Mouse models reveal outer hair cell dysfunction, suggesting KMT2D gene mutations contribute to hearing impairment beyond infections or structural issues.
Area of Science:
- Genetics
- Otolaryngology
- Developmental Biology
Background:
- Kabuki syndrome type 1 (KS1) is associated with hearing loss, typically identified in middle childhood.
- Existing theories attribute KS1 hearing loss to immune deficiency-related infections or structural ear abnormalities.
Purpose of the Study:
- To investigate the underlying mechanisms of hearing loss in Kabuki syndrome type 1.
- To differentiate between intrinsic and extrinsic factors contributing to hearing impairment in KS1.
Main Methods:
- Collected hearing status data from 21 individuals with KS1.
- Utilized a KS1 mouse model to assess hearing function from onset.
- Performed auditory brainstem response (ABR) measurements and distortion product otoacoustic emission (DPOAE) tests in mice.
- Examined cochlear structures in KS1 mouse models.
Main Results:
- Individuals with KS1 exhibit both sensorineural and conductive hearing loss, with a mean onset age of 7 years.
- KS1 mice show hearing abnormalities from early stages, with no apparent structural cochlear malformations.
- Diminished DPOAE levels in KS1 mice indicate outer hair cell dysfunction.
- Infections and structural issues partially explain hearing loss, but not the entirety of the deficit.
Conclusions:
- KMT2D gene dysfunction is a primary cause of sensorineural hearing loss in KS1.
- Outer hair cell dysfunction contributes significantly to hearing impairment in KS1.
- Hearing loss in KS1 results from a combination of genetic factors and external influences like infections.
Related Concept Videos
02:43Mouse Models of Cancer Study
Mice have long served as models for studying human biology and pathology because of their phylogenetic and physiological similarity with humans. They are also easy to maintain and breed in the laboratory, and hence, many inbred strains are now available for research. Studies on mice have contributed immeasurably to our understanding of cancer biology.
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
The development of transgenic, knockout, and knock-in mice has led to an exponential increase in their use as model organisms in research,...
00:50Unrenewable Cells
In humans, the photoreceptor cells of the eye and sensory hair cells of the ear lack stem cells. These cells are thus unrenewable and cannot be replaced when they are damaged or destroyed.
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of their outer...
Photoreceptors
The retina is composed of several layers and contains specialized cells called photoreceptors. The photoreceptors (rods and cones) change their membrane potential when stimulated by light energy. There are two types of photoreceptors—rods and cones—which differ in the shape of their outer...
01:28Disorders of the Nervous Tissue
Nervous tissue is a vital component of the human body's communication system, enabling us to perceive and respond to stimuli. However, like all other tissues, it is vulnerable to disorders and diseases that can significantly impact our neurological functioning.
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...
Homeostatic Imbalances:
Alzheimer's disease manifests as a gradual decline in memory and cognitive abilities, attributed to the buildup of amyloid plaques and neurofibrillary tangles in the brain.
Parkinson's disease arises from the...