Related Experiment Video
Updated: Jul 28, 2026
07:32
Surgical Method for Virally Mediated Gene Delivery to the Mouse Inner Ear through the Round Window Membrane
Published on: March 16, 2015
Sensorineural deafness inherited as a tissue specific mitochondrial disorder
1Department of Pediatrics, Felsenstein Research Institute, Beilinson Medical Centre, Sackler School of Medicine, Tel Aviv University, Israel.
Journal of Medical Genetics
|February 1, 1992
Summary
This study identifies a large family with hereditary deafness, revealing a unique inheritance pattern involving both mitochondrial and autosomal recessive genes. This discovery offers new insights into the genetic causes of non-syndromic hearing loss.
Area of Science:
- Genetics
- Otolaryngology
- Mitochondrial Biology
Background:
- Hereditary deafness is a significant cause of hearing impairment, often with complex genetic underpinnings.
- Non-syndromic deafness accounts for the majority of inherited hearing loss cases.
- Understanding the genetic basis of deafness is crucial for diagnosis and potential therapeutic strategies.
Purpose of the Study:
- To characterize a large kindred with hereditary deafness in the Israeli-Arab population.
- To investigate the inheritance pattern and genetic model of deafness in this family.
- To explore the molecular basis of this unique form of inherited hearing loss.
Main Methods:
- Family history tracing over five generations.
- Clinical evaluation and audiometry of affected and unaffected individuals.
- Formal family segregation analysis to determine the genetic model.
Main Results:
- Identified 55 individuals with progressive, severe to profound sensorineural hearing loss.
- The inheritance pattern is consistent with a two-locus model involving a mitochondrial gene and an autosomal recessive gene.
- The disorder requires homozygous presence of a nuclear gene for clinical expression.
Conclusions:
- This kindred presents a rare instance of inherited, tissue-specific mitochondrial disease.
- The simultaneous involvement of mitochondrial and nuclear genes offers a unique model for studying hereditary deafness.
- Further molecular investigation is warranted to elucidate the specific genes and mechanisms involved.
Related Concept Videos
01:31Translation
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of Life
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
02:59Animal Mitochondrial Genetics
Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
01:48ATP Synthase: Mechanism
In animals, the mitochondrial F1F0 ATP synthase is the key protein that synthesizes ATP molecules through a complex catalytic mechanism. While the nuclear genome encodes the majority of ATP synthase subunits, the mitochondrial genome encodes some of the enzyme's most critical components. The formation of this multi-subunit enzyme is a complex multi-step process regulated at the level of transcription, translation, and assembly. Defects in one or more of these steps can result in decreased ATP...
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...
01:15Auditory Pathway
Auditory pathways constitute the complex neural circuits responsible for transmitting and interpreting auditory information from the peripheral auditory system to the brain. Sound waves are initially captured by the outer ear, funneled through the ear canal, and reach the tympanic membrane (eardrum). These vibrations are transmitted via the middle ear's ossicles to the inner ear's cochlea.
When viewed cross-sectionally, the cochlea reveals the scala vestibuli and scala tympani flanking the...
When viewed cross-sectionally, the cochlea reveals the scala vestibuli and scala tympani flanking the...