Component
Human HARS2 L200V-associated altered splicing
Context-specific entity; species, compartment and exposure are stated on each claim.
1 recorded relationships. Experimental role, claim status and evidence remain attached to each record.
How nutrients influence it
Every nutrient with a recorded effect on this component, credited to the nutrient that acted rather than the chapter that recorded it. Open a nutrient to see the findings and the conditions they were measured under.
Other things that act on it
Enzymes, hormones, genes, and other components with a recorded effect. These are not nutrients, so they do not count toward the arrows above. Each finding names the chapter that recorded it.
How nutrients reach it in more than one step
Chains of two or more recorded steps that end here, grouped by the nutrient they start from. Each step is a separate finding, so a chain is a route a mechanism could take, not proof that it does.
Tracing routes…
What it does
Every recorded relationship this component is part of, grouped by its role. Plain wording comes first; the technical statement follows.
What it acts on
The nucleotide change encoding HARS2 L200V also generated a transcript lacking 12 codons; the deletion product was not stably expressed in mammalian mitochondria.
Experimental context and source evidence
- availability_state
- machinery_impairment Imported condition classification; unverified.
- evidence_access
- Primary abstract
- experimental_model
- Perrault-syndrome family, transcript analysis and expression assays.
- limitations
- A machinery defect is not evidence of dietary histidine deficiency.
- nutrient_topic
- L-Histidine collection; species, compartment, exposure, co-substrates and manipulation remain explicit. · L-Histidine
- plain_language
- One DNA change affected both the protein sequence and how its RNA was assembled.
- primary_references
- Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. · 2011 · https://pubmed.ncbi.nlm.nih.gov/21464306/ · DOI 10.1073/pnas.1103471108
- trigger_kind
- machinery_impairment Imported condition classification; unverified.
L-Histidine: supply, catabolism, histamine, receptors and cross-nutrient mechanisms (2026-09-19) · lines 482–488
AI-assisted research curation; primary references, access levels and experimental limitations individually identified. Not publisher full text. · supports · Perrault-syndrome family, transcript analysis and expression assays. · source_derived_draft · unverified_draft
## histidine-hars2-splicing One DNA change affected both the protein sequence and how its RNA was assembled. The nucleotide change encoding HARS2 L200V also generated a transcript lacking 12 codons; the deletion product was not stably expressed in mammalian mitochondria. Model: Perrault-syndrome family, transcript analysis and expression assays. Limitations: A machinery defect is not evidence of dietary histidine deficiency. Evidence access: Primary abstract Mutations in mitochondrial histidyl tRNA synthetase HARS2 cause ovarian dysgenesis and sensorineural hearing loss of Perrault syndrome. · 2011 · https://pubmed.ncbi.nlm.nih.gov/21464306/ · DOI 10.1073/pnas.1103471108
Complete structured claim and evidence
The events it takes part in
A mechanism often involves more than two components. These are the full events, with every participant and its role.
Situations it appears in
Low-supply and faulty-machinery situations recorded in the chapters where this component plays a part.
In the sources
Preserved passages that mention this component, quoted exactly. Open one to read it in context.
Open hypotheses
Proposed ideas that involve this component. They are labeled as hypotheses and do not change any recorded statement.
This is a research prototype built from draft material. It is not medical advice, and its statements still await verification against the original studies.